Annotation Detail
Information
- Associated Genes
- SMPD1
- Associated Variants
-
SMPD1 p.Gly579Ser (p.G579S)
(
ENST00000342245.9,
ENST00000527275.5 )
SMPD1 p.Gly579Ser (p.G579S) ( ENST00000342245.9, ENST00000527275.5 ) - Associated Disease
- Sphingomyelin/cholesterol lipidosis
- Source Database
- ClinVar
- Description
- NM_000543.5(SMPD1):c.1735G>A (p.Gly579Ser) AND Sphingomyelin/cholesterol lipidosis
- ClinVar Allele ID
- 18021
- ClinVar RefSeq Alternation Syntax
- NM_001007593.3:c.1732G>A
- ClinVar RefSeq Alternation Syntax
- NM_000543.5:c.1735G>A
- ClinVar RefSeq Alternation Syntax
- NM_001318088.2:c.814G>A
- ClinVar RefSeq Alternation Syntax
- NM_001365135.2:c.1603G>A
- ClinVar RefSeq Alternation Syntax
- NR_027400.3:n.1688G>A
- ClinVar RefSeq Alternation Syntax
- NM_001318087.2:c.*228G>A
- ClinVar RefSeq Alternation Syntax
- NR_134502.2:n.1227G>A
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2022-06-03
- Clinical Significance Review Status
- criteria provided, multiple submitters, no conflicts
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV001248875
- ClinVar Disease
- Sphingomyelin/cholesterol lipidosis
- Observed Origin Sample
- germline
Drugs