Annotation Detail
Information
- Associated Genes
- SMPD1
- Associated Variants
-
SMPD1 p.Ala484Glu (p.A484E)
(
ENST00000342245.9,
ENST00000527275.5 )
SMPD1 p.Ala484Glu (p.A484E) ( ENST00000342245.9, ENST00000527275.5 ) - Associated Disease
- Niemann-Pick disease, type B
- Source Database
- ClinVar
- Description
- NM_000543.5(SMPD1):c.1451C>A (p.Ala484Glu) AND Niemann-Pick disease, type B
- ClinVar Allele ID
- 18034
- ClinVar RefSeq Alternation Syntax
- NM_000543.5:c.1451C>A
- ClinVar RefSeq Alternation Syntax
- NM_001007593.3:c.1448C>A
- ClinVar RefSeq Alternation Syntax
- NR_134502.2:n.923C>A
- ClinVar RefSeq Alternation Syntax
- NM_001318087.2:c.1451C>A
- ClinVar RefSeq Alternation Syntax
- NM_001365135.2:c.1319C>A
- ClinVar RefSeq Alternation Syntax
- NM_001318088.2:c.530C>A
- ClinVar RefSeq Alternation Syntax
- NR_027400.3:n.1404C>A
- Clinical Significance Description
- Likely pathogenic
- Clinical Significance Last Update
- 2022-02-05
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV001824114
- ClinVar Disease
- Niemann-Pick disease, type B
- Observed Origin Sample
- germline
Drugs