Annotation Detail
Information
- Associated Genes
- SMPD1
- Associated Variants
-
SMPD1 p.Asp253His (p.D253H)
(
ENST00000342245.9,
ENST00000527275.5 )
SMPD1 p.Asp253His (p.D253H) ( ENST00000342245.9, ENST00000527275.5 ) - Associated Disease
- Sphingomyelin/cholesterol lipidosis
- Source Database
- ClinVar
- Description
- NM_000543.5(SMPD1):c.757G>C (p.Asp253His) AND Sphingomyelin/cholesterol lipidosis
- ClinVar Allele ID
- 99227
- ClinVar RefSeq Alternation Syntax
- NM_001007593.3:c.754G>C
- ClinVar RefSeq Alternation Syntax
- NM_001318087.2:c.757G>C
- ClinVar RefSeq Alternation Syntax
- NR_027400.3:n.882G>C
- ClinVar RefSeq Alternation Syntax
- NM_001365135.2:c.757G>C
- ClinVar RefSeq Alternation Syntax
- NM_000543.5:c.757G>C
- ClinVar RefSeq Alternation Syntax
- NM_001318088.2:c.-205G>C
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2020-01-22
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV001248868
- ClinVar Disease
- Sphingomyelin/cholesterol lipidosis
- Observed Origin Sample
- germline
Drugs