Annotation Detail
Information
- Associated Genes
- POLG POLGARF
- Associated Variants
-
POLG p.Arg852Cys (p.R852C)
(
ENST00000442287.6,
ENST00000636937.2,
ENST00000268124.11 )
POLG p.Arg852Cys (p.R852C) ( ENST00000268124.11, ENST00000442287.6, ENST00000636937.2 ) - Associated Disease
- hereditary spastic paraplegia
- Source Database
- ClinVar
- Description
- NM_002693.3(POLG):c.2554C>T (p.Arg852Cys) AND Hereditary spastic paraplegia
- ClinVar Allele ID
- 202960
- ClinVar RefSeq Alternation Syntax
- NM_002693.3:c.2554C>T
- ClinVar RefSeq Alternation Syntax
- NM_001126131.2:c.2554C>T
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2017-12-01
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV001847829
- ClinVar Disease
- Hereditary spastic paraplegia
- Observed Origin Sample
- germline
Drugs