Annotation Detail
Information
- Associated Genes
- SMPD1
- Associated Variants
-
SMPD1 p.Ser438Arg (p.S438R)
(
ENST00000342245.9,
ENST00000527275.5 )
SMPD1 p.Ser438Arg (p.S438R) ( ENST00000342245.9, ENST00000527275.5 ) - Associated Disease
- Niemann-Pick disease, type B
- Source Database
- ClinVar
- Description
- NM_000543.5(SMPD1):c.1314C>A (p.Ser438Arg) AND Niemann-Pick disease, type B
- ClinVar Allele ID
- 18022
- ClinVar RefSeq Alternation Syntax
- NM_001007593.3:c.1311C>A
- ClinVar RefSeq Alternation Syntax
- NR_134502.2:n.786C>A
- ClinVar RefSeq Alternation Syntax
- NM_001318088.2:c.393C>A
- ClinVar RefSeq Alternation Syntax
- NM_000543.5:c.1314C>A
- ClinVar RefSeq Alternation Syntax
- NM_001318087.2:c.1314C>A
- ClinVar RefSeq Alternation Syntax
- NM_001365135.2:c.1182C>A
- ClinVar RefSeq Alternation Syntax
- NR_027400.3:n.1267C>A
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 1992-01-01
- Clinical Significance Review Status
- no assertion criteria provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000003117
- ClinVar Disease
- Niemann-Pick disease, type B
- Observed Origin Sample
- germline
- Pubmed
- 1301192
Drugs