Annotation Detail
Information
- Associated Genes
- SMPD1
- Associated Variants
-
SMPD1 p.Arg542Ter (p.R542*)
(
ENST00000527275.5,
ENST00000342245.9 )
SMPD1 p.Arg542Ter (p.R542*) ( ENST00000342245.9, ENST00000527275.5 ) - Source Database
- ClinVar
- Description
- NM_000543.5(SMPD1):c.1624C>T (p.Arg542Ter) AND See cases
- ClinVar Allele ID
- 99225
- ClinVar RefSeq Alternation Syntax
- NM_001365135.2:c.1492C>T
- ClinVar RefSeq Alternation Syntax
- NM_001318088.2:c.703C>T
- ClinVar RefSeq Alternation Syntax
- NM_000543.5:c.1624C>T
- ClinVar RefSeq Alternation Syntax
- NR_134502.2:n.1116C>T
- ClinVar RefSeq Alternation Syntax
- NM_001318087.2:c.*117C>T
- ClinVar RefSeq Alternation Syntax
- NR_027400.3:n.1577C>T
- ClinVar RefSeq Alternation Syntax
- NM_001007593.3:c.1621C>T
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2019-11-29
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV002251966
- Observed Origin Sample
- germline
Drugs