Annotation Detail
Information
- Associated Genes
- SMPD1
- Associated Variants
-
SMPD1 p.Gln294Lys (p.Q294K)
(
ENST00000342245.9,
ENST00000527275.5 )
SMPD1 p.Gln294Lys (p.Q294K) ( ENST00000342245.9, ENST00000527275.5 ) - Associated Disease
- Niemann-pick disease, intermediate, protracted neurovisceral
- Source Database
- ClinVar
- Description
- NM_000543.5(SMPD1):c.880C>A (p.Gln294Lys) AND Niemann-pick disease, intermediate, protracted neurovisceral
- ClinVar Allele ID
- 18033
- ClinVar RefSeq Alternation Syntax
- NM_000543.5:c.880C>A
- ClinVar RefSeq Alternation Syntax
- NM_001318088.2:c.-82C>A
- ClinVar RefSeq Alternation Syntax
- NR_027400.3:n.1005C>A
- ClinVar RefSeq Alternation Syntax
- NM_001007593.3:c.877C>A
- ClinVar RefSeq Alternation Syntax
- NM_001365135.2:c.880C>A
- ClinVar RefSeq Alternation Syntax
- NM_001318087.2:c.880C>A
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2005-01-01
- Clinical Significance Review Status
- no assertion criteria provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000003129
- ClinVar Disease
- Niemann-pick disease, intermediate, protracted neurovisceral
- Observed Origin Sample
- germline
- Pubmed
- 15877209
- Pubmed
- 9266408
Drugs