Annotation Detail
Information
- Associated Genes
- POLG FANCI POLGARF
- Associated Variants
-
POLG p.Glu1143Gly (p.E1143G)
(
ENST00000442287.6,
ENST00000636937.2,
ENST00000268124.11 )
POLG p.Glu1143Gly (p.E1143G) ( ENST00000268124.11, ENST00000442287.6, ENST00000636937.2 ) - Associated Disease
- hereditary spastic paraplegia
- Source Database
- ClinVar
- Description
- NM_002693.3(POLG):c.3428A>G (p.Glu1143Gly) AND Hereditary spastic paraplegia
- ClinVar Allele ID
- 34164
- ClinVar RefSeq Alternation Syntax
- NM_001126131.2:c.3428A>G
- ClinVar RefSeq Alternation Syntax
- NM_002693.3:c.3428A>G
- Clinical Significance Description
- Benign
- Clinical Significance Last Update
- 2021-08-29
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV001847611
- ClinVar Disease
- Hereditary spastic paraplegia
- Observed Origin Sample
- germline
Drugs