Annotation Detail
Information
- Associated Genes
- POLG POLGARF
- Associated Variants
-
POLG p.Pro587Leu (p.P587L)
(
ENST00000442287.6,
ENST00000636937.2,
ENST00000268124.11 )
POLG p.Thr251Ile (p.T251I) ( ENST00000636937.2, ENST00000268124.11, ENST00000442287.6 )
POLG p.Pro587Leu (p.P587L) ( ENST00000268124.11, ENST00000442287.6, ENST00000636937.2 )
POLG p.Thr251Ile (p.T251I) ( ENST00000268124.11, ENST00000442287.6, ENST00000636937.2 ) - Associated Disease
- POLG-Related Spectrum Disorders
- Source Database
- ClinVar
- Description
- NM_002693.3(POLG):c.[1760C>T;752C>T] AND POLG-Related Spectrum Disorders
- ClinVar Allele ID
- 28544
- ClinVar Allele ID
- 28542
- ClinVar RefSeq Alternation Syntax
- NM_001126131.2:c.752C>T
- ClinVar RefSeq Alternation Syntax
- NM_002693.3:c.752C>T
- ClinVar RefSeq Alternation Syntax
- NM_002693.3:c.1760C>T
- ClinVar RefSeq Alternation Syntax
- NM_001126131.2:c.1760C>T
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2022-06-07
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV002271777
- ClinVar Disease
- POLG-Related Spectrum Disorders
- Observed Origin Sample
- germline
Drugs