Annotation Detail
Information
- Associated Genes
- POLG POLGARF
- Associated Variants
-
POLG p.Gln497= (p.Q497=)
(
ENST00000442287.6,
ENST00000268124.11,
ENST00000636937.2 )
POLG p.Gln497= (p.Q497=) ( ENST00000268124.11, ENST00000442287.6, ENST00000636937.2 ) - Associated Disease
- Progressive sclerosing poliodystrophy
- Source Database
- ClinVar
- Description
- NM_002693.3(POLG):c.1491G>A (p.Gln497=) AND Progressive sclerosing poliodystrophy
- ClinVar Allele ID
- 3046562
- ClinVar RefSeq Alternation Syntax
- NM_001126131.2:c.1491G>A
- ClinVar RefSeq Alternation Syntax
- NM_002693.3:c.1491G>A
- Clinical Significance Description
- Likely benign
- Clinical Significance Last Update
- 2023-11-05
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV003626553
- ClinVar Disease
- Progressive sclerosing poliodystrophy
- Observed Origin Sample
- germline
Drugs