View genomic variant #0000023175

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.8528T>C
Published as -
Segregation -
DB-ID chrM_000051 See all 2 reported entries
MSCV MSCV_0001434
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

0 entries on 0 pages.


Transcript ID     


Variant ID     

Affects function     

Stop! No results have been found that match your criteria.
Please redefine your search criteria.

ClinVar @ MSeqDR

RCVaccession RCV000010272; RCV000854219; RCV002260584;
Chromosome M:8528..8528
ClinVar Allele ID 24679
Disease database name and identifier MONDO:MONDO:0044970, MeSH:D028361, MedGen:C0751651, Orphanet:68380|MONDO:MONDO:0010777, MedGen:C2748884, OMIM:500006|Human Phenotype Ontology:HP:0005152, MONDO:MONDO:0010771, MedGen:C1708371, OMIM:500000, Orphanet:137675
ClinVar preferred disease name Mitochondrial disease|Cardiomyopathy, infantile hypertrophic|Histiocytoid cardiomyopathy
HGVS variant names NC 012920.1:m.8528T>C
ClinVar review status reviewed by expert panel
Clinical Significance Likely pathogenic
Variant type single nucleotide variant
Sequence Ontology for variant type SO:0001483
Variant clinical sources reported ClinGen:CA120595|Genetic Testing Registry (GTR):GTR000591967|Genetic Testing Registry (GTR):GTR000591975|Genetic Testing Registry (GTR):GTR000591976|OMIM:516060.0010|OMIM:516070.0003
Gene symbol:Gene id. MT-ATP6:4508|MT-ATP8:4509
Allele origin germline
dbSNP ID 387906422
Variant Flags

ClinVar @ MSeqDR as full content XML tree

MSeqDR View Variant at Gbrowse

Mitomap Mitochondrial Variant Phenotype Information:

MT-ATP8/6?Infantile cardiomyopathyT8528CW-R (ATP8); M(start)-T (ATP6)++ReportedCoding_and_Control_Region

Ensembl Variant Phenotype Information: