Annotation Detail
Information
- Associated Genes
- POLG POLGARF
- Associated Variants
-
POLG p.Trp748Ser (p.W748S)
(
ENST00000442287.6,
ENST00000636937.2,
ENST00000268124.11 )
POLG p.Trp748Ser (p.W748S) ( ENST00000268124.11, ENST00000442287.6, ENST00000636937.2 ) - Associated Disease
- Progressive sclerosing poliodystrophy
- Source Database
- ClinVar
- Description
- NM_002693.3(POLG):c.2243G>C (p.Trp748Ser) AND Progressive sclerosing poliodystrophy
- ClinVar Allele ID
- 28546
- ClinVar RefSeq Alternation Syntax
- NM_001126131.2:c.2243G>C
- ClinVar RefSeq Alternation Syntax
- NM_002693.3:c.2243G>C
- Clinical Significance Description
- Pathogenic/Likely pathogenic
- Clinical Significance Last Update
- 2024-01-25
- Clinical Significance Review Status
- criteria provided, multiple submitters, no conflicts
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000014461
- ClinVar Disease
- Progressive sclerosing poliodystrophy
- Observed Origin Sample
- germline
- Observed Origin Sample
- maternal
- Observed Origin Sample
- paternal
- Observed Origin Sample
- unknown
- Pubmed
- 17426723
- Pubmed
- 15929042
- Pubmed
- 16177225
- Pubmed
- 17894835
- Pubmed
- 15477547
- Pubmed
- 11571332
- Pubmed
- 16080118
- Pubmed
- 15824347
Drugs