Annotation Detail
Information
- Associated Genes
- FA2H
- Associated Variants
-
FA2H p.Glu78Lys (p.E78K)
(
ENST00000219368.8 )
FA2H p.Glu78Lys (p.E78K) ( ENST00000219368.8 ) - Associated Disease
- hereditary spastic paraplegia
- Source Database
- ClinVar
- Description
- NM_024306.5(FA2H):c.232G>A (p.Glu78Lys) AND Hereditary spastic paraplegia
- ClinVar Allele ID
- 336056
- ClinVar RefSeq Alternation Syntax
- NM_024306.5:c.232G>A
- Clinical Significance Description
- Uncertain significance
- Clinical Significance Last Update
- 2016-12-12
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV001848665
- ClinVar Disease
- Hereditary spastic paraplegia
- Observed Origin Sample
- germline
Drugs