8993 (T > G)

General info

Mitimpact ID

MI.995

Chr

chrM

Start

8993

Ref

Alt

Gene symbol

MT-ATP6

Gene position

467

Gene start

8527

Gene end

9207

Gene strand

Codon substitution

CTG/CGG

AA pos

156

AA ref

AA alt

Functional effect

missense

OMIM ID

516060

HGVS

NC_012920.1:g.8993T>G

HGNC ID

7414

RC complex

Ensembl gene ID

ENSG00000198899

Ensembl protein ID

ENSP00000354632

Ensembl transcript ID

Uniprot ID

Uniprot name

Ncbi gene ID

Ncbi protein ID

Conservation

PhyloP 100v

5.929

PhyloP 470way

0.742

PhastCons 100v

0.903

PhastCons 470way

0.061

Pathogenicity predictors

PolyPhen2

Probably damaging

SIFT

Deleterious

SIFT4G

Damaging

VEST

Neutral

MitoClass 1

Damaging

SNPDryad

Pathogenic

MutationTaster

Disease automatic

fathmm

Tolerated

AlphaMissense

Likely pathogenic

CADD

Deleterious

PROVEAN

Damaging

Mutation Assessor

High

EFIN SP

Damaging

EFIN HD

Neutral

MLC

Neutral

PANTHER

Disease

PhD-SNP

Disease

Pathogenicity meta-predictors

APOGEE1

Pathogenic

APOGEE2

Pathogenic

CAROL

Deleterious

Condel

Neutral

COVEC WMV

Deleterious

MtoolBox

Deleterious

DEOGEN2

Tolerated

Meta SNP

Disease

Cancer-specific predictors

PolyPhen2 transf

Low impact

SIFT transf

Low impact

MutationAssessor transf

High impact

CHASM

Neutral

Databases of Frequencies and Phenotypes

Clinvar ID

9641

Clinvar ALLELEID

24680

Clinvar CLNDISDB

Mondo:mondo:0027069, medgen:c3275684, omim:500015;

mondo:mondo:0009723, medgen:c0023264, omim:256000, orphanet:506;

mondo:mondo:0044970, medgen:c0751651, orphanet:68380;

medgen:cn169374;

medgen:c3661900;

mondo:mondo:0010794, medgen:c1328349, omim:551500, orphanet:644;

human phenotype ontology:hp:0001086, human phenotype ontology:hp:0001112, mondo:mondo:0010788, medgen:c0917796, omim:535000, orphanet:104;

human phenotype ontology:hp:0001251, human phenotype ontology:hp:0001253, human phenotype ontology:hp:0002513, human phenotype ontology:hp:0007050, human phenotype ontology:hp:0007157, mondo:mondo:0000437, medgen:c0007758, orphanet:102002;

human phenotype ontology:hp:0000510, human phenotype ontology:hp:0001127, human phenotype ontology:hp:0007635, human phenotype ontology:hp:0007645, human phenotype ontology:hp:0007742, human phenotype ontology:hp:0007816, human phenotype ontology:hp:0007826, human phenotype ontology:hp:0007927, human phenotype ontology:hp:0008036, medgen:c4551714;

human phenotype ontology:hp:0001622, medgen:c0151526;

medgen:c0431659;

human phenotype ontology:hp:0001162, human phenotype ontology:hp:0004698, human phenotype ontology:hp:0005763, human phenotype ontology:hp:0009984, mondo:mondo:0017426, medgen:c0431904;

human phenotype ontology:hp:0000369, medgen:c0239234;

human phenotype ontology:hp:0002744, medgen:c1398522;

human phenotype ontology:hp:0005651, human phenotype ontology:hp:0005662, human phenotype ontology:hp:0005713, human phenotype ontology:hp:0005801, human phenotype ontology:hp:0005821, human phenotype ontology:hp:0006195, human phenotype ontology:hp:0006218, human phenotype ontology:hp:0006240, human phenotype ontology:hp:0009698, human phenotype ontology:hp:0100490, medgen:c0409348;

human phenotype ontology:hp:0000316, human phenotype ontology:hp:0000578, human phenotype ontology:hp:0002001, human phenotype ontology:hp:0004657, human phenotype ontology:hp:0007871, medgen:c0020534, omim:145400;

human phenotype ontology:hp:0000779, human phenotype ontology:hp:0001554, human phenotype ontology:hp:0006610, medgen:c1827524

Clinvar CLNDN

Mitochondrial complex 5 (atp synthase) deficiency, mitochondrial type 1;

leigh syndrome;

mitochondrial disease;

not specified;

not provided;

narp syndrome;

leber optic atrophy;

cerebellar ataxia;

rod-cone dystrophy;

premature birth;

hypoplasia of scrotum;

postaxial hand polydactyly;

low-set ears;

bilateral cleft lip and palate;

camptodactyly of finger;

hypertelorism;

wide intermamillary distance

Clinvar CLNSIG

Pathogenic

MITOMAP Allele

8993T>G

MITOMAP Disease Clinical info

NArp / leigh disease / mils / other

MITOMAP Disease Status

Cfrm [p]

MITOMAP Disease Hom/Het

+/+

MITOMAP General GenBank Freq

0.0098%

MITOMAP General GenBank Seqs

MITOMAP General GenBank Curated refs

10092618 19875463 10611124 12134275 8602753 28429146 17518546 9199572 7605802 17452590 32220313 29452638 8240109 32858252 10669202 8750605 24642831 8250532 17886296 11925565 18261463 1550128 18241671 7603783 14748908 17568559 18647627 10660580 8858707 31996241 8078883 11453454 38465286 29587845 30726454 21457906 17257906 10417290 30369864 30379275 34080141 29850888 19370763 17545557 15282179 37737178 30461153 17323145 25009317 33600551 18496570 16525806 29980632 27129022 18402672 32042921 19669818 11076946 18850577 21550418 29253894 2137962 27450367 26725255 10426322 16337222 15753359 17403843 32313153 29307858 1442494 27209570 16050991 7798979 37439868 20471050 25192510 19144360 20064630 23301511 16542579 16639504 27206685 1539598 9686360 11371515 27466392 31276579 31665838 10889120 1436530 28385334 16532470 26404827 16546428 9568930 27919073 7529982 17170133 8095070 29602698 31187502 10590437 16483543 25240982 27000225 29101127 12404959 23297368 11074292 29224958 20123042 8476414 28754700 34829316 9870208 10862082 18620007 29983856 18256697 17276738 15647368 11843698 19891062 12372991 18674747 19747204 37038312 25152966 8042671 11730668 19433277 27450679 20854934 22080835 30768233 9222207 14998933 10611123 11331900 30763462 15694179 33717984 21120938 17276742 19667215 9329425 16402916 8830176 20138159 9858860 9556461 8687192 22241703 19160410 8751860 8435424 8505474 18413591 10676807 11751691 30095618 28385333

MITOMAP Variant Class

disease

Gnomad AN

56433

Gnomad AC hom

Gnomad AF hom

0.0

Gnomad AC het

Gnomad AF het

0.0

Gnomad filter

Npg

HelixMTdb AC hom

HelixMTdb AF hom

0.0

HelixMTdb AC het

HelixMTdb AF het

5.1e-06

HelixMTdb mean ARF

0.59358

HelixMTdb max ARF

0.59358

ToMMo JPN54K AC

ToMMo JPN54K AF

ToMMo JPN54K AN

COSMIC 90

dbSNP 156

rs199476133

Residue interaction

EVmutation

ATP6: 156L -

Site A-B InterP

Site A-B IntraP

ΔΔG intra

ΔΔG intra interface

ΔΔG inter

Compensated Pathogenic Deviations

Frequency

AA ref

CPD AA alt

Aln pos

RefSeq protein ID

Species name

Ncbi taxon ID

8993 (T > A)

General info

Mitimpact ID

MI.996

Chr

chrM

Start

8993

Ref

Alt

Gene symbol

MT-ATP6

Gene position

467

Gene start

8527

Gene end

9207

Gene strand

Codon substitution

CTG/CAG

AA pos

156

AA ref

AA alt

Functional effect

missense

OMIM ID

516060

HGVS

NC_012920.1:g.8993T>A

HGNC ID

7414

RC complex

Ensembl gene ID

ENSG00000198899

Ensembl protein ID

ENSP00000354632

Ensembl transcript ID

Uniprot ID

Uniprot name

Ncbi gene ID

Ncbi protein ID

Conservation

PhyloP 100v

5.929

PhyloP 470way

0.742

PhastCons 100v

0.903

PhastCons 470way

0.061

Pathogenicity predictors

PolyPhen2

Probably damaging

SIFT

Deleterious

SIFT4G

Damaging

VEST

Neutral

MitoClass 1

Damaging

SNPDryad

Pathogenic

MutationTaster

Disease

fathmm

Tolerated

AlphaMissense

Likely pathogenic

CADD

Deleterious

PROVEAN

Damaging

Mutation Assessor

High

EFIN SP

Damaging

EFIN HD

Neutral

MLC

Neutral

PANTHER

PhD-SNP

Pathogenicity meta-predictors

APOGEE1

Pathogenic

APOGEE2

Pathogenic

CAROL

Deleterious

Condel

Neutral

COVEC WMV

Deleterious

MtoolBox

Deleterious

DEOGEN2

Tolerated

Meta SNP

Cancer-specific predictors

PolyPhen2 transf

Low impact

SIFT transf

Low impact

MutationAssessor transf

High impact

CHASM

Neutral

Databases of Frequencies and Phenotypes

Clinvar ID

Clinvar ALLELEID

Clinvar CLNDISDB

Clinvar CLNDN

Clinvar CLNSIG

MITOMAP Allele

8993T>A

MITOMAP Disease Clinical info

MITOMAP Disease Status

MITOMAP Disease Hom/Het

./.

MITOMAP General GenBank Freq

MITOMAP General GenBank Seqs

MITOMAP General GenBank Curated refs

MITOMAP Variant Class

Gnomad AN

Gnomad AC hom

Gnomad AF hom

0.0

Gnomad AC het

Gnomad AF het

Gnomad filter

HelixMTdb AC hom

HelixMTdb AF hom

0.0

HelixMTdb AC het

HelixMTdb AF het

0.0

HelixMTdb mean ARF

0.0

HelixMTdb max ARF

ToMMo JPN54K AC

ToMMo JPN54K AF

ToMMo JPN54K AN

COSMIC 90

dbSNP 156

Residue interaction

EVmutation

ATP6: 156L -

Site A-B InterP

Site A-B IntraP

ΔΔG intra

ΔΔG intra interface

ΔΔG inter

Compensated Pathogenic Deviations

Frequency

AA ref

CPD AA alt

Aln pos

RefSeq protein ID

Species name

Ncbi taxon ID

8993 (T > C)

General info

Mitimpact ID

MI.997

Chr

chrM

Start

8993

Ref

Alt

Gene symbol

MT-ATP6

Gene position

467

Gene start

8527

Gene end

9207

Gene strand

Codon substitution

CTG/CCG

AA pos

156

AA ref

AA alt

Functional effect

missense

OMIM ID

516060

HGVS

NC_012920.1:g.8993T>C

HGNC ID

7414

RC complex

Ensembl gene ID

ENSG00000198899

Ensembl protein ID

ENSP00000354632

Ensembl transcript ID

Uniprot ID

Uniprot name

Ncbi gene ID

Ncbi protein ID

Conservation

PhyloP 100v

5.929

PhyloP 470way

0.742

PhastCons 100v

0.903

PhastCons 470way

0.061

Pathogenicity predictors

PolyPhen2

Probably damaging

SIFT

Deleterious

SIFT4G

Damaging

VEST

Neutral

MitoClass 1

Damaging

SNPDryad

Pathogenic

MutationTaster

Disease automatic

fathmm

Tolerated

AlphaMissense

Likely pathogenic

CADD

Deleterious

PROVEAN

Damaging

Mutation Assessor

High

EFIN SP

Damaging

EFIN HD

Neutral

MLC

Neutral

PANTHER

Disease

PhD-SNP

Disease

Pathogenicity meta-predictors

APOGEE1

Pathogenic

APOGEE2

Pathogenic

CAROL

Deleterious

Condel

Neutral

COVEC WMV

Deleterious

MtoolBox

Deleterious

DEOGEN2

Tolerated

Meta SNP

Disease

Cancer-specific predictors

PolyPhen2 transf

Low impact

SIFT transf

Low impact

MutationAssessor transf

High impact

CHASM

Neutral

Databases of Frequencies and Phenotypes

Clinvar ID

9642

Clinvar ALLELEID

24681

Clinvar CLNDISDB

Mondo:mondo:0027069, medgen:c3275684, omim:500015;

medgen:cn517202;

mondo:mondo:0044970, medgen:c0751651, orphanet:68380;

mondo:mondo:0009723, medgen:c0023264, omim:256000, orphanet:506;

mondo:mondo:0010794, medgen:c1328349, omim:551500, orphanet:644;

mondo:mondo:0010781, medgen:c1838916, omim:500010;

human phenotype ontology:hp:0001086, human phenotype ontology:hp:0001112, mondo:mondo:0010788, medgen:c0917796, omim:535000, orphanet:104

Clinvar CLNDN

Mitochondrial complex 5 (atp synthase) deficiency, mitochondrial type 1;

not provided;

mitochondrial disease;

leigh syndrome;

narp syndrome;

ataxia and polyneuropathy, adult-onset;

leber optic atrophy

Clinvar CLNSIG

Pathogenic

MITOMAP Allele

8993T>C

MITOMAP Disease Clinical info

NArp / leigh disease / mils / other

MITOMAP Disease Status

Cfrm [p]

MITOMAP Disease Hom/Het

-/+

MITOMAP General GenBank Freq

0.0033%

MITOMAP General GenBank Seqs

MITOMAP General GenBank Curated refs

19875463 19747204 37038312 31665838 8602753 15466086 9762610 28429146 30128709 17323145 10467733 18496570 18055910 16532470 26404827 8395787 9568930 18402672 24153443 32042921 30763462 31187502 32858252 33717984 8190310 29253894 29101127 24642831 29512743 23297368 11074292 17403843 20123042 8687192 16049925 17568559 14748908 15324306 31996241 10222646 25192510 19160410 9701486 9870208 20064630 10862082 18620007 30095618 21457906 10417290

MITOMAP Variant Class

disease

Gnomad AN

56431

Gnomad AC hom

Gnomad AF hom

1.77e-05

Gnomad AC het

Gnomad AF het

1.77e-05

Gnomad filter

Pass

HelixMTdb AC hom

HelixMTdb AF hom

0.0

HelixMTdb AC het

HelixMTdb AF het

1.02e-05

HelixMTdb mean ARF

0.41236

HelixMTdb max ARF

0.5687

ToMMo JPN54K AC

ToMMo JPN54K AF

ToMMo JPN54K AN

COSMIC 90

dbSNP 156

rs199476133

Residue interaction

EVmutation

ATP6: 156L -

Site A-B InterP

Site A-B IntraP

ΔΔG intra

ΔΔG intra interface

ΔΔG inter

Compensated Pathogenic Deviations

Frequency

AA ref

CPD AA alt

Aln pos

RefSeq protein ID

Species name

Ncbi taxon ID

~	8993 (T/G)	8993 (T/A)	8993 (T/C)
~	8993 (CTG/CGG)	8993 (CTG/CAG)	8993 (CTG/CCG)
MitImpact id	MI.995	MI.996	MI.997
Chr	chrM	chrM	chrM
Start	8993	8993	8993
Ref	T	T	T
Alt	G	A	C
Gene symbol	MT-ATP6	MT-ATP6	MT-ATP6
Extended annotation	mitochondrially encoded ATP synthase membrane subunit 6	mitochondrially encoded ATP synthase membrane subunit 6	mitochondrially encoded ATP synthase membrane subunit 6
Gene position	467	467	467
Gene start	8527	8527	8527
Gene end	9207	9207	9207
Gene strand	+	+	+
Codon substitution	CTG/CGG	CTG/CAG	CTG/CCG
AA position	156	156	156
AA ref	L	L	L
AA alt	R	Q	P
Functional effect general	missense	missense	missense
Functional effect detailed	missense	missense	missense
OMIM id	516060	516060	516060
HGVS	NC_012920.1:g.8993T>G	NC_012920.1:g.8993T>A	NC_012920.1:g.8993T>C
HGNC id	7414	7414	7414
Respiratory Chain complex	V	V	V
Ensembl gene id	ENSG00000198899	ENSG00000198899	ENSG00000198899
Ensembl transcript id	ENST00000361899	ENST00000361899	ENST00000361899
Ensembl protein id	ENSP00000354632	ENSP00000354632	ENSP00000354632
Uniprot id	P00846	P00846	P00846
Uniprot name	ATP6_HUMAN	ATP6_HUMAN	ATP6_HUMAN
Ncbi gene id	4508	4508	4508
Ncbi protein id	YP_003024031.1	YP_003024031.1	YP_003024031.1
PhyloP 100V	5.929	5.929	5.929
PhyloP 470Way	0.742	0.742	0.742
PhastCons 100V	0.903	0.903	0.903
PhastCons 470Way	0.061	0.061	0.061
PolyPhen2	probably_damaging	probably_damaging	probably_damaging
PolyPhen2 score	1.0	1.0	1.0
SIFT	deleterious	deleterious	deleterious
SIFT score	0	0	0
SIFT4G	Damaging	Damaging	Damaging
SIFT4G score	0.007	0.0	0.0
VEST	Neutral	Neutral	Neutral
VEST pvalue	0.1	0.12	0.12
VEST FDR	0.65	0.65	0.65
Mitoclass.1	damaging	damaging	damaging
SNPDryad	Pathogenic	Pathogenic	Pathogenic
SNPDryad score	0.99	0.98	1
MutationTaster	Disease automatic	Disease	Disease automatic
MutationTaster score	0.576775	0.522921	0.999982
MutationTaster converted rankscore	0.3234	0.31912	0.54805
MutationTaster model	simple_aae	simple_aae	simple_aae
MutationTaster AAE	L156R	L156Q	L156P
fathmm	Tolerated	Tolerated	Tolerated
fathmm score	2.35	2.34	2.34
fathmm converted rankscore	0.16217	0.16351	0.16351
AlphaMissense	likely_pathogenic	likely_pathogenic	likely_pathogenic
AlphaMissense score	0.9212	0.9528	0.9633
CADD	Deleterious	Deleterious	Deleterious
CADD score	4.273714	4.273067	3.983345
CADD phred	24.0	24.0	23.6
PROVEAN	Damaging	Damaging	Damaging
PROVEAN score	-5.18	-5.16	-5.96
MutationAssessor	high	high	high
MutationAssessor score	5.335	5.335	5.335
EFIN SP	Damaging	Damaging	Damaging
EFIN SP score	0.062	0.356	0.052
EFIN HD	Neutral	Neutral	Neutral
EFIN HD score	0.42	0.476	0.508
MLC	Neutral	Neutral	Neutral
MLC score	0.08859919	0.08859919	0.08859919
PANTHER score	0.88	.	0.931
PhD-SNP score	0.887	.	0.879
APOGEE1	Pathogenic	Pathogenic	Pathogenic
APOGEE1 score	0.95	0.7	0.95
APOGEE2	Pathogenic	Pathogenic	Pathogenic
APOGEE2 score	0.973931315913835	0.914608701922158	0.973287196910564
CAROL	deleterious	deleterious	deleterious
CAROL score	1	1	1
Condel	neutral	neutral	neutral
Condel score	0	0	0
COVEC WMV	deleterious	deleterious	deleterious
COVEC WMV score	6	6	6
MtoolBox	deleterious	deleterious	deleterious
MtoolBox DS	0.91	0.87	0.9
DEOGEN2	Tolerated	Tolerated	Tolerated
DEOGEN2 score	0.42331	0.42331	0.43031
DEOGEN2 converted rankscore	0.77411	0.77411	0.77881
Meta-SNP	Disease	.	Disease
Meta-SNP score	0.914	.	0.912
PolyPhen2 transf	low impact	low impact	low impact
PolyPhen2 transf score	-3.6	-3.6	-3.6
SIFT_transf	low impact	low impact	low impact
SIFT transf score	-1.4	-1.4	-1.4
MutationAssessor transf	high impact	high impact	high impact
MutationAssessor transf score	2.87	2.87	2.87
CHASM	Neutral	Neutral	Neutral
CHASM pvalue	0.48	0.68	0.43
CHASM FDR	0.9	0.9	0.9
ClinVar id	9641.0	.	9642.0
ClinVar Allele id	24680.0	.	24681.0
ClinVar CLNDISDB	MONDO:MONDO:0027069,MedGen:C3275684,OMIM:500015\|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000,Orphanet:506\|MONDO:MONDO:0044970,MedGen:C0751651,Orphanet:68380\|MedGen:CN169374\|MedGen:C3661900\|MONDO:MONDO:0010794,MedGen:C1328349,OMIM:551500,Orphanet:644\|Human_Phenotype_Ontology:HP:0001086,Human_Phenotype_Ontology:HP:0001112,MONDO:MONDO:0010788,MedGen:C0917796,OMIM:535000,Orphanet:104\|Human_Phenotype_Ontology:HP:0001251,Human_Phenotype_Ontology:HP:0001253,Human_Phenotype_Ontology:HP:0002513,Human_Phenotype_Ontology:HP:0007050,Human_Phenotype_Ontology:HP:0007157,MONDO:MONDO:0000437,MedGen:C0007758,Orphanet:102002\|Human_Phenotype_Ontology:HP:0000510,Human_Phenotype_Ontology:HP:0001127,Human_Phenotype_Ontology:HP:0007635,Human_Phenotype_Ontology:HP:0007645,Human_Phenotype_Ontology:HP:0007742,Human_Phenotype_Ontology:HP:0007816,Human_Phenotype_Ontology:HP:0007826,Human_Phenotype_Ontology:HP:0007927,Human_Phenotype_Ontology:HP:0008036,MedGen:C4551714\|Human_Phenotype_Ontology:HP:0001622,MedGen:C0151526\|MedGen:C0431659\|Human_Phenotype_Ontology:HP:0001162,Human_Phenotype_Ontology:HP:0004698,Human_Phenotype_Ontology:HP:0005763,Human_Phenotype_Ontology:HP:0009984,MONDO:MONDO:0017426,MedGen:C0431904\|Human_Phenotype_Ontology:HP:0000369,MedGen:C0239234\|Human_Phenotype_Ontology:HP:0002744,MedGen:C1398522\|Human_Phenotype_Ontology:HP:0005651,Human_Phenotype_Ontology:HP:0005662,Human_Phenotype_Ontology:HP:0005713,Human_Phenotype_Ontology:HP:0005801,Human_Phenotype_Ontology:HP:0005821,Human_Phenotype_Ontology:HP:0006195,Human_Phenotype_Ontology:HP:0006218,Human_Phenotype_Ontology:HP:0006240,Human_Phenotype_Ontology:HP:0009698,Human_Phenotype_Ontology:HP:0100490,MedGen:C0409348\|Human_Phenotype_Ontology:HP:0000316,Human_Phenotype_Ontology:HP:0000578,Human_Phenotype_Ontology:HP:0002001,Human_Phenotype_Ontology:HP:0004657,Human_Phenotype_Ontology:HP:0007871,MedGen:C0020534,OMIM:145400\|Human_Phenotype_Ontology:HP:0000779,Human_Phenotype_Ontology:HP:0001554,Human_Phenotype_Ontology:HP:0006610,MedGen:C1827524	.	MONDO:MONDO:0027069,MedGen:C3275684,OMIM:500015\|MedGen:CN517202\|MONDO:MONDO:0044970,MedGen:C0751651,Orphanet:68380\|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000,Orphanet:506\|MONDO:MONDO:0010794,MedGen:C1328349,OMIM:551500,Orphanet:644\|MONDO:MONDO:0010781,MedGen:C1838916,OMIM:500010\|Human_Phenotype_Ontology:HP:0001086,Human_Phenotype_Ontology:HP:0001112,MONDO:MONDO:0010788,MedGen:C0917796,OMIM:535000,Orphanet:104
ClinVar CLNDN	Mitochondrial_complex_5_(ATP_synthase)_deficiency,_mitochondrial_type_1\|Leigh_syndrome\|Mitochondrial_disease\|not_specified\|not_provided\|NARP_syndrome\|Leber_optic_atrophy\|Cerebellar_ataxia\|Rod-cone_dystrophy\|Premature_birth\|Hypoplasia_of_scrotum\|Postaxial_hand_polydactyly\|Low-set_ears\|Bilateral_cleft_lip_and_palate\|Camptodactyly_of_finger\|Hypertelorism\|Wide_intermamillary_distance	.	Mitochondrial_complex_5_(ATP_synthase)_deficiency,_mitochondrial_type_1\|not_provided\|Mitochondrial_disease\|Leigh_syndrome\|NARP_syndrome\|Ataxia_and_polyneuropathy,_adult-onset\|Leber_optic_atrophy
ClinVar CLNSIG	Pathogenic	.	Pathogenic
MITOMAP Disease Clinical info	NARP / Leigh Disease / MILS / other	.	NARP / Leigh Disease / MILS / other
MITOMAP Disease Status	Cfrm [P]	.	Cfrm [P]
MITOMAP Disease Hom/Het	+/+	./.	-/+
MITOMAP General GenBank Freq	0.0098%	.	0.0033%
MITOMAP General GenBank Seqs	6	.	2
MITOMAP General Curated refs	10092618;19875463;10611124;12134275;8602753;28429146;17518546;9199572;7605802;17452590;32220313;29452638;8240109;32858252;10669202;8750605;24642831;8250532;17886296;11925565;18261463;1550128;18241671;7603783;14748908;17568559;18647627;10660580;8858707;31996241;8078883;11453454;38465286;29587845;30726454;21457906;17257906;10417290;30369864;30379275;34080141;29850888;19370763;17545557;15282179;37737178;30461153;17323145;25009317;33600551;18496570;16525806;29980632;27129022;18402672;32042921;19669818;11076946;18850577;21550418;29253894;2137962;27450367;26725255;10426322;16337222;15753359;17403843;32313153;29307858;1442494;27209570;16050991;7798979;37439868;20471050;25192510;19144360;20064630;23301511;16542579;16639504;27206685;1539598;9686360;11371515;27466392;31276579;31665838;10889120;1436530;28385334;16532470;26404827;16546428;9568930;27919073;7529982;17170133;8095070;29602698;31187502;10590437;16483543;25240982;27000225;29101127;12404959;23297368;11074292;29224958;20123042;8476414;28754700;34829316;9870208;10862082;18620007;29983856;18256697;17276738;15647368;11843698;19891062;12372991;18674747;19747204;37038312;25152966;8042671;11730668;19433277;27450679;20854934;22080835;30768233;9222207;14998933;10611123;11331900;30763462;15694179;33717984;21120938;17276742;19667215;9329425;16402916;8830176;20138159;9858860;9556461;8687192;22241703;19160410;8751860;8435424;8505474;18413591;10676807;11751691;30095618;28385333	.	19875463;19747204;37038312;31665838;8602753;15466086;9762610;28429146;30128709;17323145;10467733;18496570;18055910;16532470;26404827;8395787;9568930;18402672;24153443;32042921;30763462;31187502;32858252;33717984;8190310;29253894;29101127;24642831;29512743;23297368;11074292;17403843;20123042;8687192;16049925;17568559;14748908;15324306;31996241;10222646;25192510;19160410;9701486;9870208;20064630;10862082;18620007;30095618;21457906;10417290
MITOMAP Variant Class	disease	.	disease
gnomAD 3.1 AN	56433.0	.	56431.0
gnomAD 3.1 AC Homo	0.0	.	1.0
gnomAD 3.1 AF Hom	0.0	.	1.77208e-05
gnomAD 3.1 AC Het	0.0	.	1.0
gnomAD 3.1 AF Het	0.0	.	1.77208e-05
gnomAD 3.1 filter	npg	.	PASS
HelixMTdb AC Hom	0.0	.	0.0
HelixMTdb AF Hom	0.0	.	0.0
HelixMTdb AC Het	1.0	.	2.0
HelixMTdb AF Het	5.1024836e-06	.	1.0204967e-05
HelixMTdb mean ARF	0.59358	.	0.41236
HelixMTdb max ARF	0.59358	.	0.5687
ToMMo 54KJPN AC	.	.	.
ToMMo 54KJPN AF	.	.	.
ToMMo 54KJPN AN	.	.	.
COSMIC 90	.	.	.
dbSNP 156 id	rs199476133	.	rs199476133

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8993 (T > G)

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Conservation

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8993 (T > A)

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Conservation

Pathogenicity predictors

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Cancer-specific predictors

Databases of Frequencies and Phenotypes

Residue interaction

Compensated Pathogenic Deviations

8993 (T > C)

General info

Conservation

Pathogenicity predictors

Pathogenicity meta-predictors

Cancer-specific predictors

Databases of Frequencies and Phenotypes

Residue interaction

Compensated Pathogenic Deviations