Annotation Detail
Information
- Associated Genes
- POLG POLGARF
- Associated Variants
-
POLG p.Trp748Ser (p.W748S)
(
ENST00000442287.6,
ENST00000636937.2,
ENST00000268124.11 )
POLG p.Gln497His (p.Q497H) ( ENST00000268124.11, ENST00000636937.2, ENST00000442287.6 )
POLG p.Trp748Ser (p.W748S) ( ENST00000268124.11, ENST00000442287.6, ENST00000636937.2 )
POLG p.Gln497His (p.Q497H) ( ENST00000268124.11, ENST00000442287.6, ENST00000636937.2 ) - Associated Disease
- Charcot-Marie-Tooth disease
- Source Database
- ClinVar
- Description
- NM_001126131.1(POLG):c.[1491G>C(;)2243G>C] AND Charcot-Marie-Tooth disease
- ClinVar Allele ID
- 28546
- ClinVar Allele ID
- 28549
- ClinVar RefSeq Alternation Syntax
- NM_001126131.2:c.1491G>C
- ClinVar RefSeq Alternation Syntax
- NM_002693.3:c.1491G>C
- ClinVar RefSeq Alternation Syntax
- NM_001126131.2:c.2243G>C
- ClinVar RefSeq Alternation Syntax
- NM_002693.3:c.2243G>C
- Clinical Significance Description
- Uncertain significance
- Clinical Significance Last Update
- 2013-11-01
- Clinical Significance Review Status
- no assertion criteria provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000144870
- ClinVar Disease
- Charcot-Marie-Tooth disease
- Observed Origin Sample
- not applicable
Drugs