Annotation Detail
Information
- Associated Genes
- SMPD1
- Associated Variants
-
SMPD1 p.Leu139Pro (p.L139P)
(
ENST00000342245.9,
ENST00000527275.5 )
SMPD1 p.Leu139Pro (p.L139P) ( ENST00000342245.9, ENST00000527275.5 ) - Associated Disease
- not provided
- Source Database
- ClinVar
- Description
- NM_000543.5(SMPD1):c.416T>C (p.Leu139Pro) AND not provided
- ClinVar Allele ID
- 199815
- ClinVar RefSeq Alternation Syntax
- NM_001318087.2:c.416T>C
- ClinVar RefSeq Alternation Syntax
- NR_134502.2:n.541T>C
- ClinVar RefSeq Alternation Syntax
- NM_001365135.2:c.416T>C
- ClinVar RefSeq Alternation Syntax
- NM_000543.5:c.416T>C
- ClinVar RefSeq Alternation Syntax
- NM_001318088.2:c.-546T>C
- ClinVar RefSeq Alternation Syntax
- NM_001007593.3:c.413T>C
- ClinVar RefSeq Alternation Syntax
- NR_027400.3:n.541T>C
- Clinical Significance Description
- Likely pathogenic
- Clinical Significance Last Update
- 2020-05-03
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV001169955
- ClinVar Disease
- not provided
- Observed Origin Sample
- unknown
Drugs