Annotation Detail
Information
- Associated Genes
- SMPD1
- Associated Variants
-
SMPD1 p.Leu304Pro (p.L304P)
(
ENST00000527275.5,
ENST00000342245.9 )
SMPD1 p.Leu304Pro (p.L304P) ( ENST00000342245.9, ENST00000527275.5 ) - Associated Disease
- Sphingomyelin/cholesterol lipidosis
- Source Database
- ClinVar
- Description
- NM_000543.5(SMPD1):c.911T>C (p.Leu304Pro) AND Sphingomyelin/cholesterol lipidosis
- ClinVar Allele ID
- 18028
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2020-01-22
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000192222
- ClinVar Disease
- Sphingomyelin/cholesterol lipidosis
- Observed Origin Sample
- germline
Drugs