View genomic variant #0000023211

Chromosome M
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Affects function
Type -
DNA change (genomic) (Relative to hg19 / GRCh37) m.9185T>C
Published as -
Segregation -
DB-ID chrM_000060 See all 2 reported entries
MSCV MSCV_0001443
dbSNP ID -
Frequency -
Sources ; clinvar;
Reference -
Variant remarks -
Genetic origin -
Variant_disease -
Average frequency (large NGS studies) Variant not found in online data sets
Owner LOVD

Variant on transcripts

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ClinVar @ MSeqDR

RCVaccession RCV000010282; RCV000240612; RCV000495689; RCV000754648; RCV001267926; RCV001542709; RCV002267606;
Chromosome M:9185..9185
ClinVar Allele ID 24686
Disease database name and identifier Human Phenotype Ontology:HP:0001086, Human Phenotype Ontology:HP:0001112, MONDO:MONDO:0010788, MedGen:C0917796, OMIM:535000, Orphanet:ORPHA104, SNOMED CT:58610003|MONDO:MONDO:0009723, MedGen:C0023264, OMIM:256000, Orphanet:ORPHA506, SNOMED CT:29570005|MONDO:MONDO:0015626, MedGen:C0007959, OMIM:PS118220, Orphanet:ORPHA166, SNOMED CT:50548001|MONDO:MONDO:0027069, MedGen:C3275684, OMIM:500015|MONDO:MONDO:0044970, MedGen:C0751651, Orphanet:ORPHA68380|MedGen:CN043634|MedGen:CN517202
ClinVar preferred disease name Leber optic atrophy|Leigh syndrome|Charcot-Marie-Tooth disease|Mitochondrial complex 5 (ATP synthase) deficiency, mitochondrial type 1|Mitochondrial disease|Mitochondrial DNA-Associated Leigh Syndrome and NARP|not provided
HGVS variant names NC 012920.1:m.9185T>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 OMIM Allelic Variant:516060.0008
Gene symbol:Gene id. MT-ATP6:4508
Allele origin
dbSNP ID 199476138
Variant Flags

ClinVar @ MSeqDR as full content XML tree

MSeqDR View Variant at Gbrowse

Mitomap Mitochondrial Variant Phenotype Information:

MT-ATP6Leigh Disease/Ataxia syndromes/ NARP-like diseaseT9185CL-P++CfrmCoding_and_Control_Region

Ensembl Variant Phenotype Information: