Annotation Detail

Information
Associated Genes
POLG POLGARF
Associated Variants
POLG p.Tyr955Cys (p.Y955C) ( ENST00000636937.2, ENST00000268124.11, ENST00000442287.6 )
POLG p.Tyr955Cys (p.Y955C) ( ENST00000268124.11, ENST00000442287.6, ENST00000636937.2 )
Associated Disease
not provided
Source Database
ClinVar
Description
NM_002693.3(POLG):c.2864A>G (p.Tyr955Cys) AND not provided
ClinVar Allele ID
28534
ClinVar RefSeq Alternation Syntax
NM_001126131.2:c.2864A>G
ClinVar RefSeq Alternation Syntax
NM_002693.3:c.2864A>G
Clinical Significance Description
Pathogenic
Clinical Significance Last Update
2024-02-01
Clinical Significance Review Status
criteria provided, multiple submitters, no conflicts
URL
https://www.ncbi.nlm.nih.gov/clinvar/RCV000676321
ClinVar Disease
not provided
Observed Origin Sample
germline
Observed Origin Sample
unknown
Drugs