Annotation Detail
Information
- Associated Genes
- SMPD1
- Associated Variants
-
SMPD1 p.Gly244Arg (p.G244R)
(
ENST00000527275.5,
ENST00000342245.9 )
SMPD1 p.Gly244Arg (p.G244R) ( ENST00000342245.9, ENST00000527275.5 ) - Associated Disease
- Niemann-Pick disease, type A Niemann-Pick disease, type B
- Source Database
- ClinVar
- Description
- NM_000543.5(SMPD1):c.730G>A (p.Gly244Arg) AND multiple conditions
- ClinVar Allele ID
- 18026
- ClinVar RefSeq Alternation Syntax
- NM_001318088.2:c.-232G>A
- ClinVar RefSeq Alternation Syntax
- NM_001007593.3:c.727G>A
- ClinVar RefSeq Alternation Syntax
- NM_000543.5:c.730G>A
- ClinVar RefSeq Alternation Syntax
- NR_027400.3:n.855G>A
- ClinVar RefSeq Alternation Syntax
- NM_001365135.2:c.730G>A
- ClinVar RefSeq Alternation Syntax
- NM_001318087.2:c.730G>A
- Clinical Significance Description
- Likely pathogenic
- Clinical Significance Last Update
- 2024-01-24
- Clinical Significance Review Status
- criteria provided, multiple submitters, no conflicts
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV001851601
- ClinVar Disease
- Niemann-Pick disease, type A
- ClinVar Disease
- Niemann-Pick disease, type B
- Observed Origin Sample
- germline
- Observed Origin Sample
- unknown
Drugs