View genomic variant #0000001438
Chromosome |
M |
Allele |
Unknown |
Affects function (as reported) |
Affects function |
Affects function (by curator) |
Affects function |
Type |
subst |
DNA change (genomic) (Relative to hg19 / GRCh37) |
m.8993T>C |
Published as |
- |
GERP |
4.900 |
Segregation |
- |
DB-ID |
chrM_000055 See all 2 reported entries |
MSCV |
MSCV_0001438 |
dbSNP ID |
rs199476133 |
Frequency |
- |
Sources |
; clinvar; ensembl; |
Reference |
10660580;2137962;9883875;11916326;17663470;8395787;10590437;10676807;10889120;11843698;{PMID:11925 |
Variant remarks |
- |
Genetic origin |
- |
Variant_disease |
- |
Average frequency (large NGS studies) |
Variant not found in online data sets |
Owner |
LOVD |
Variant on transcripts
ClinVar @ MSeqDR | RCVaccession | RCV000010276; RCV000010275; RCV000495030; RCV000754647; RCV000854390; RCV001268873; RCV002247300; | Chromosome | M:8993..8993 | ClinVar Allele ID | 24681 | Disease database name and identifier | MONDO:MONDO:0027069, MedGen:C3275684, OMIM:500015|MedGen:C3661900|MONDO:MONDO:0044970, MeSH:D028361, MedGen:C0751651, Orphanet:68380|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|MONDO:MONDO:0009723, MedGen:C0023264, OMIM:256000, Orphanet:506 | ClinVar preferred disease name | Mitochondrial complex 5 (ATP synthase) deficiency, mitochondrial type 1|not provided|Mitochondrial disease|NARP syndrome|Ataxia and polyneuropathy, adult-onset|Leber optic atrophy|Leigh syndrome | HGVS variant names | NC 012920.1:m.8993T>C | ClinVar review status | reviewed by expert panel | Clinical Significance | Pathogenic | Variant type | single nucleotide variant | Sequence Ontology for variant type | SO:0001483 | Variant clinical sources reported | ClinGen:CA120596|Genetic Testing Registry (GTR):GTR000500595|Genetic Testing Registry (GTR):GTR000556568|Genetic Testing Registry (GTR):GTR000591967|Genetic Testing Registry (GTR):GTR000591969|Genetic Testing Registry (GTR):GTR000591975|Genetic Testing Registry (GTR):GTR000591976|OMIM:516060.0002 | Gene symbol:Gene id. | MT-ATP6:4508 | Allele origin | | dbSNP ID | 199476133 | Variant Flags | : |
ClinVar @ MSeqDR as full content XML tree
ClinVar @ MSeqDR | RCVaccession | RCV000010273; RCV000010274; RCV000191106; RCV000224643; RCV000414771; RCV000495419; RCV000754646; RCV001376274; RCV001542706; RCV002285006; | Chromosome | M:8993..8993 | ClinVar Allele ID | 24680 | Disease database name and identifier | 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|MONDO:MONDO:0027069, MedGen:C3275684, OMIM:500015|MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0044970, MeSH:D028361, MedGen:C0751651, Orphanet:68380|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|MONDO:MONDO:0009723, MedGen:C0023264, OMIM:256000, Orphanet:506|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:0002744, MedGen:C1398522|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:0001162, Human Phenotype Ontology:HP:0004698, Human Phenotype Ontology:HP:0005763, Human Phenotype Ontology:HP:0009984, MONDO:MONDO:0017426, MedGen:C0431904|MedGen:C0431659|Human Phenotype Ontology:HP:0001622, MedGen:C0151526|Human Phenotype Ontology:HP:0000779, Human Phenotype Ontology:HP:0001554, Human Phenotype Ontology:HP:0006610, MedGen:C1827524|Human Phenotype Ontology:HP:0000369, MedGen:C0239234|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 | ClinVar preferred disease name | Cerebellar ataxia|Mitochondrial complex 5 (ATP synthase) deficiency, mitochondrial type 1|not specified|not provided|Mitochondrial disease|NARP syndrome|Leber optic atrophy|Leigh syndrome|Camptodactyly of finger|Bilateral cleft lip and palate|Hypertelorism|Postaxial hand polydactyly|Hypoplasia of scrotum|Premature birth|Wide intermamillary distance|Low-set ears|Rod-cone dystrophy | HGVS variant names | NC 012920.1:m.8993T>G | ClinVar review status | reviewed by expert panel | Clinical Significance | Pathogenic | Variant type | single nucleotide variant | Sequence Ontology for variant type | SO:0001483 | Variant clinical sources reported | ClinGen:CA250380|Genetic Testing Registry (GTR):GTR000500595|Genetic Testing Registry (GTR):GTR000556568|Genetic Testing Registry (GTR):GTR000556575|Genetic Testing Registry (GTR):GTR000591967|Genetic Testing Registry (GTR):GTR000591969|Genetic Testing Registry (GTR):GTR000591975|Genetic Testing Registry (GTR):GTR000591976|OMIM:516060.0001 | Gene symbol:Gene id. | MT-ATP6:4508|MT-ATP8:4509|MT-TC:4511|MT-CO1:4512|MT-CO2:4513|MT-CO3:4514|MT-ND1:4535|MT-ND2:4536|MT-ND3:4537|MT-ND4:4538 | Allele origin | | dbSNP ID | 199476133 | Variant Flags | : |
ClinVar @ MSeqDR as full content XML tree
ClinVar @ MSeqDR | RCVaccession | RCV000854391; | Chromosome | M:8993..8994 | ClinVar Allele ID | 681583 | Disease database name and identifier | MONDO:MONDO:0010794, MedGen:C1328349, OMIM:551500, Orphanet:644 | ClinVar preferred disease name | NARP syndrome | HGVS variant names | NC 012920.1:m.8993 8994inv | ClinVar review status | criteria provided, single submitter | Clinical Significance | Pathogenic | Variant type | Inversion | Sequence Ontology for variant type | SO:1000036 | Gene symbol:Gene id. | MT-ATP6:4508 | Allele origin | germline | Variant Flags | : |
ClinVar @ MSeqDR as full content XML tree
MSeqDR View Variant at Gbrowse Mitomap Mitochondrial Variant Phenotype Information:
Locus | Disease | Allele | Amino_Acid_Change | Homoplasmy | Heteroplasmy | STATUS | Note | MT-ATP6 | NARP/Leigh Disease/MILS/other | T8993C | L-P | - | + | Cfrm | Coding_and_Control_Region | MT-ATP6 | NARP/Leigh Disease/MILS/other | T8993G | L-R | - | + | Cfrm | Coding_and_Control_Region |
Ensembl Variant Phenotype Information:
None
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