Annotation Detail
Information
- Associated Genes
- NPC1
- Associated Variants
-
NPC1 p.His215Arg (p.H215R)
(
ENST00000269228.10 )
NPC1 p.His215Arg (p.H215R) ( ENST00000269228.10 ) - Associated Disease
- Niemann-Pick disease, type C1
- Source Database
- ClinVar
- Description
- NM_000271.5(NPC1):c.644A>G (p.His215Arg) AND Niemann-Pick disease, type C1
- ClinVar Allele ID
- 98621
- ClinVar RefSeq Alternation Syntax
- NM_000271.5:c.644A>G
- Clinical Significance Description
- Benign
- Clinical Significance Last Update
- 2024-02-01
- Clinical Significance Review Status
- criteria provided, multiple submitters, no conflicts
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000610094
- ClinVar Disease
- Niemann-Pick disease, type C1
- Observed Origin Sample
- germline
Drugs