Annotation Detail
Information
- Associated Genes
- SMPD1
- Associated Variants
-
SMPD1 p.Ala198Pro (p.A198P)
(
ENST00000527275.5,
ENST00000342245.9 )
SMPD1 p.Ala198Pro (p.A198P) ( ENST00000342245.9, ENST00000527275.5 ) - Associated Disease
- Niemann-Pick disease, type B
- Source Database
- ClinVar
- Description
- NM_000543.5(SMPD1):c.592G>C (p.Ala198Pro) AND Niemann-Pick disease, type B
- ClinVar Allele ID
- 199816
- ClinVar RefSeq Alternation Syntax
- NM_001318087.2:c.592G>C
- ClinVar RefSeq Alternation Syntax
- NM_001365135.2:c.592G>C
- ClinVar RefSeq Alternation Syntax
- NR_027400.3:n.717G>C
- ClinVar RefSeq Alternation Syntax
- NM_001318088.2:c.-370G>C
- ClinVar RefSeq Alternation Syntax
- NM_000543.5:c.592G>C
- ClinVar RefSeq Alternation Syntax
- NM_001007593.3:c.589G>C
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2019-01-21
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV001194004
- ClinVar Disease
- Niemann-Pick disease, type B
- Observed Origin Sample
- germline
Drugs