Annotation Detail

Information

Associated Genes: POLG POLGARF
Associated Variants: POLG p.Ala467Thr (p.A467T) ( ENST00000268124.11, ENST00000636937.2, ENST00000442287.6 )
POLG p.Ala467Thr (p.A467T) ( ENST00000268124.11, ENST00000442287.6, ENST00000636937.2 )
Associated Disease: Progressive sclerosing poliodystrophy
Source Database: ClinVar
Description: NM_002693.3(POLG):c.1399G>A (p.Ala467Thr) AND Progressive sclerosing poliodystrophy
ClinVar Allele ID: 28535
ClinVar RefSeq Alternation Syntax: NM_001126131.2:c.1399G>A
ClinVar RefSeq Alternation Syntax: NM_002693.3:c.1399G>A
Clinical Significance Description: Pathogenic
Clinical Significance Last Update: 2024-01-29
Clinical Significance Review Status: criteria provided, multiple submitters, no conflicts
URL: https://www.ncbi.nlm.nih.gov/clinvar/RCV000014443
ClinVar Disease: Progressive sclerosing poliodystrophy
Observed Origin Sample: germline
Observed Origin Sample: paternal
Observed Origin Sample: unknown
Observed Origin Sample: maternal
Pubmed: 17426723
Pubmed: 16177225
Pubmed: 16130100
Pubmed: 19251978
Pubmed: 15477547
Pubmed: 632821
Pubmed: 15824347
Pubmed: 11431686
Pubmed: 15122711
Pubmed: 21276947
Pubmed: 26942291
Pubmed: 12565911
Pubmed: 14694057
Pubmed: 11571332
Pubmed: 26942292

Drugs