Annotation Detail
Information
- Associated Genes
- SMPD1
- Associated Variants
-
SMPD1 p.Ala359Asp (p.A359D)
(
ENST00000342245.9,
ENST00000527275.5 )
SMPD1 p.Ala359Asp (p.A359D) ( ENST00000342245.9, ENST00000527275.5 ) - Associated Disease
- Sphingomyelin/cholesterol lipidosis
- Source Database
- ClinVar
- Description
- NM_000543.5(SMPD1):c.1076C>A (p.Ala359Asp) AND Sphingomyelin/cholesterol lipidosis
- ClinVar Allele ID
- 199818
- ClinVar RefSeq Alternation Syntax
- NM_001318088.2:c.115C>A
- ClinVar RefSeq Alternation Syntax
- NM_001007593.3:c.1073C>A
- ClinVar RefSeq Alternation Syntax
- NR_027400.3:n.1201C>A
- ClinVar RefSeq Alternation Syntax
- NM_001318087.2:c.1076C>A
- ClinVar RefSeq Alternation Syntax
- NM_001365135.2:c.1076C>A
- ClinVar RefSeq Alternation Syntax
- NM_000543.5:c.1076C>A
- Clinical Significance Description
- not provided
- Clinical Significance Review Status
- no assertion provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000192224
- ClinVar Disease
- Sphingomyelin/cholesterol lipidosis
- Observed Origin Sample
- germline
Drugs