Annotation Detail
Information
- Associated Genes
- APBB1 SMPD1
- Associated Variants
-
SMPD1 p.Arg498Leu (p.R498L)
(
ENST00000342245.9,
ENST00000527275.5 )
SMPD1 p.Arg498Leu (p.R498L) ( ENST00000342245.9, ENST00000527275.5 ) - Associated Disease
- Niemann-Pick disease, type A
- Source Database
- ClinVar
- Description
- NM_000543.5(SMPD1):c.1493G>T (p.Arg498Leu) AND Niemann-Pick disease, type A
- ClinVar Allele ID
- 18019
- ClinVar RefSeq Alternation Syntax
- NM_001007593.3:c.1490G>T
- ClinVar RefSeq Alternation Syntax
- NM_000543.5:c.1493G>T
- ClinVar RefSeq Alternation Syntax
- NM_001318088.2:c.572G>T
- ClinVar RefSeq Alternation Syntax
- NR_134502.2:n.985G>T
- ClinVar RefSeq Alternation Syntax
- NM_001318087.2:c.1513G>T
- ClinVar RefSeq Alternation Syntax
- NR_027400.3:n.1446G>T
- ClinVar RefSeq Alternation Syntax
- NM_001365135.2:c.1361G>T
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2019-11-12
- Clinical Significance Review Status
- criteria provided, multiple submitters, no conflicts
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000003114
- ClinVar Disease
- Niemann-Pick disease, type A
- Observed Origin Sample
- germline
- Observed Origin Sample
- unknown
- Pubmed
- 2023926
Drugs