Annotation Detail
Information
- Associated Genes
- SMPD1
- Associated Variants
-
SMPD1 p.Arg602His (p.R602H)
(
ENST00000527275.5,
ENST00000342245.9 )
SMPD1 p.Arg602His (p.R602H) ( ENST00000342245.9, ENST00000527275.5 ) - Associated Disease
- Sphingomyelin/cholesterol lipidosis
- Source Database
- ClinVar
- Description
- NM_000543.5(SMPD1):c.1805G>A (p.Arg602His) AND Sphingomyelin/cholesterol lipidosis
- ClinVar Allele ID
- 186828
- ClinVar RefSeq Alternation Syntax
- NM_001365135.2:c.1673G>A
- ClinVar RefSeq Alternation Syntax
- NR_027400.3:n.1758G>A
- ClinVar RefSeq Alternation Syntax
- NR_134502.2:n.1297G>A
- ClinVar RefSeq Alternation Syntax
- NM_001318087.2:c.*298G>A
- ClinVar RefSeq Alternation Syntax
- NM_000543.5:c.1805G>A
- ClinVar RefSeq Alternation Syntax
- NM_001007593.3:c.1802G>A
- ClinVar RefSeq Alternation Syntax
- NM_001318088.2:c.884G>A
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2022-04-14
- Clinical Significance Review Status
- criteria provided, multiple submitters, no conflicts
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV001248877
- ClinVar Disease
- Sphingomyelin/cholesterol lipidosis
- Observed Origin Sample
- germline
Drugs