Annotation Detail
Information
- Associated Genes
- SMPD1
- Associated Variants
-
SMPD1 p.Phe333SerfsTer52 (p.F333Sfs*52)
(
ENST00000527275.5,
ENST00000342245.9 )
SMPD1 p.Phe333SerfsTer52 (p.F333Sfs*52) ( ENST00000342245.9, ENST00000527275.5 ) - Associated Disease
- Niemann-Pick disease, type A
- Source Database
- ClinVar
- Description
- NM_000543.5(SMPD1):c.996del (p.Phe333fs) AND Niemann-Pick disease, type A
- ClinVar Allele ID
- 18029
- ClinVar RefSeq Alternation Syntax
- NM_001007593.3:c.993del
- ClinVar RefSeq Alternation Syntax
- NM_001318087.2:c.996del
- ClinVar RefSeq Alternation Syntax
- NM_001318088.2:c.35del
- ClinVar RefSeq Alternation Syntax
- NM_001365135.2:c.996del
- ClinVar RefSeq Alternation Syntax
- NR_027400.3:n.1121del
- ClinVar RefSeq Alternation Syntax
- NM_000543.5:c.996del
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2023-10-17
- Clinical Significance Review Status
- criteria provided, multiple submitters, no conflicts
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000003124
- ClinVar Disease
- Niemann-Pick disease, type A
- Observed Origin Sample
- germline
- Observed Origin Sample
- unknown
- Pubmed
- 8401540
Drugs