Annotation Detail
Information
- Associated Genes
- SMPD1
- Associated Variants
-
SMPD1 p.Tyr469Ser (p.Y469S)
(
ENST00000527275.5,
ENST00000342245.9 )
SMPD1 p.Tyr469Ser (p.Y469S) ( ENST00000342245.9, ENST00000527275.5 ) - Associated Disease
- Niemann-Pick disease, type A
- Source Database
- ClinVar
- Description
- NM_000543.5(SMPD1):c.1406A>C (p.Tyr469Ser) AND Niemann-Pick disease, type A
- ClinVar Allele ID
- 18035
- ClinVar RefSeq Alternation Syntax
- NM_001365135.2:c.1274A>C
- ClinVar RefSeq Alternation Syntax
- NM_001318088.2:c.485A>C
- ClinVar RefSeq Alternation Syntax
- NM_000543.5:c.1406A>C
- ClinVar RefSeq Alternation Syntax
- NM_001318087.2:c.1406A>C
- ClinVar RefSeq Alternation Syntax
- NM_001007593.3:c.1403A>C
- ClinVar RefSeq Alternation Syntax
- NR_027400.3:n.1359A>C
- ClinVar RefSeq Alternation Syntax
- NR_134502.2:n.878A>C
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2009-07-01
- Clinical Significance Review Status
- no assertion criteria provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000003131
- ClinVar Disease
- Niemann-Pick disease, type A
- Observed Origin Sample
- germline
- Pubmed
- 19405096
Drugs