Annotation Detail

Information

Associated Genes: MT-TK
Associated Variants: NC_012920.1(MT-TK):m.8344A>G
NC_012920.1(MT-TK):m.8344A>G
Associated Disease: MERRF syndrome
Source Database: ClinVar
Description: NC_012920.1(MT-TK):m.8344A>G AND MERRF syndrome
ClinVar Allele ID: 24618
Clinical Significance Description: Pathogenic/Likely pathogenic
Clinical Significance Last Update: 2022-05-31
Clinical Significance Review Status: criteria provided, multiple submitters, no conflicts
URL: https://www.ncbi.nlm.nih.gov/clinvar/RCV000010192
ClinVar Disease: MERRF syndrome
Observed Origin Sample: germline
Observed Origin Sample: maternal
Pubmed: 8264702
Pubmed: 20581069
Pubmed: 9529371
Pubmed: 2112427
Pubmed: 8513395
Pubmed: 1487239
Pubmed: 1463005
Pubmed: 1899320
Pubmed: 1910341
Pubmed: 1324294
Pubmed: 1900002
Pubmed: 2124116
Pubmed: 8447321
Pubmed: 17200493
Pubmed: 8069655
Pubmed: 8198140
Pubmed: 9674814
Pubmed: 8602753
Pubmed: 1334369
Pubmed: 1661776
Pubmed: 1910259
Pubmed: 1678125
Pubmed: 27155576
Pubmed: 10699170
Pubmed: 8170567
Pubmed: 7647790

Drugs