View genomic variant #0000004917

Chromosome M
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Effect unknown
Type subst
DNA change (genomic) (Relative to hg19 / GRCh37) m.8584G>A
Published as -
GERP -0.311
Segregation -
DB-ID chrM_001203
MSCV MSCV_0004917
dbSNP ID rs3135028
Frequency -
Sources ;
Reference -
Variant remarks -
Genetic origin -
Variant_disease -
Average frequency (large NGS studies) Variant not found in online data sets
Owner LOVD

Variant on transcripts

1 entry on 1 page. Showing entry 1.


Transcript ID     


Variant ID     

Affects function     



DNA change (cDNA)     



GVS function     

Splice distance     

MT-ATP6 00001337 MT-ATP6-201 0000004917 ?/? - . c.58G>A p.A20T - - - -

ClinVar @ MSeqDR

RCVaccession RCV000854248;
Chromosome M:8584..8584
ClinVar Allele ID 681449
Disease database name and identifier MONDO:MONDO:0009723, MedGen:C0023264, OMIM:256000, Orphanet:506
ClinVar preferred disease name Leigh syndrome
HGVS variant names NC 012920.1:m.8584G>A
ClinVar review status criteria provided, single submitter
Clinical Significance Benign
Variant type single nucleotide variant
Sequence Ontology for variant type SO:0001483
Gene symbol:Gene id. MT-ATP6:4508
Allele origin germline
dbSNP ID 3135028
Variant Flags

ClinVar @ MSeqDR as full content XML tree

ClinVar @ MSeqDR

RCVaccession RCV000495437;
Chromosome M:8585..12965
ClinVar Allele ID 424216
Disease database name and identifier MONDO:MONDO:0044970, MeSH:D028361, MedGen:C0751651, Orphanet:68380
ClinVar preferred disease name Mitochondrial disease
HGVS variant names NC 012920.1:m.8587 12967del
ClinVar review status no assertion criteria provided
Clinical Significance Pathogenic
Variant type Deletion
Sequence Ontology for variant type SO:0000159
Variant clinical sources reported ClinGen:CA645373337
Gene symbol:Gene id. MT-ATP6:4508|MT-CO3:4514|MT-ND3:4537|MT-ND4:4538|MT-ND4L:4539|MT-ND5:4540|MT-TG:4563|MT-TH:4564|MT-TL2:4568|MT-TR:4573
Allele origin germline
Variant Flags

ClinVar @ MSeqDR as full content XML tree

MSeqDR View Variant at Gbrowse

Mitomap Mitochondrial Variant Phenotype Information:


Ensembl Variant Phenotype Information: