Annotation Detail
Information
- Associated Genes
- POLG POLGARF
- Associated Variants
-
POLG p.Gly737Arg (p.G737R)
(
ENST00000442287.6,
ENST00000268124.11,
ENST00000636937.2 )
POLG p.Gly737Arg (p.G737R) ( ENST00000268124.11, ENST00000442287.6, ENST00000636937.2 ) - Source Database
- ClinVar
- Description
- NM_002693.3(POLG):c.2209G>C (p.Gly737Arg) AND Tip-toe gait
- ClinVar Allele ID
- 28552
- ClinVar RefSeq Alternation Syntax
- NM_001126131.2:c.2209G>C
- ClinVar RefSeq Alternation Syntax
- NM_002693.3:c.2209G>C
- Clinical Significance Description
- Likely pathogenic
- Clinical Significance Last Update
- 2023-01-10
- Clinical Significance Review Status
- no assertion criteria provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV003318542
- Observed Origin Sample
- germline
Drugs