Annotation Detail
Information
- Associated Genes
- SMPD1 LOC130005193
- Associated Variants
-
SMPD1 c.-39A>T
(
ENST00000527275.5,
ENST00000342245.9 )
SMPD1 c.-39A>T ( ENST00000342245.9, ENST00000527275.5 ) - Associated Disease
- Niemann-Pick disease, type A
- Source Database
- ClinVar
- Description
- NM_000543.5(SMPD1):c.-39A>T AND Niemann-Pick disease, type A
- ClinVar Allele ID
- 868202
- ClinVar RefSeq Alternation Syntax
- NR_134502.2:n.87A>T
- ClinVar RefSeq Alternation Syntax
- NM_001318088.2:c.-1000A>T
- ClinVar RefSeq Alternation Syntax
- NM_001365135.2:c.-39A>T
- ClinVar RefSeq Alternation Syntax
- NM_000543.5:c.-39A>T
- ClinVar RefSeq Alternation Syntax
- NR_027400.3:n.87A>T
- ClinVar RefSeq Alternation Syntax
- NM_001007593.3:c.-39A>T
- ClinVar RefSeq Alternation Syntax
- NM_001318087.2:c.-39A>T
- Clinical Significance Description
- Uncertain significance
- Clinical Significance Last Update
- 2018-01-13
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV001107110
- ClinVar Disease
- Niemann-Pick disease, type A
- Observed Origin Sample
- germline
Drugs