Annotation Detail
Information
- Associated Genes
- SMPD1
- Associated Variants
-
SMPD1 p.Met384Ile (p.M384I)
(
ENST00000527275.5,
ENST00000342245.9 )
SMPD1 p.Met384Ile (p.M384I) ( ENST00000342245.9, ENST00000527275.5 ) - Associated Disease
- not provided
- Source Database
- ClinVar
- Description
- NM_000543.5(SMPD1):c.1152G>A (p.Met384Ile) AND not provided
- ClinVar Allele ID
- 18025
- ClinVar RefSeq Alternation Syntax
- NM_001007593.3:c.1149G>A
- ClinVar RefSeq Alternation Syntax
- NR_134502.2:n.624G>A
- ClinVar RefSeq Alternation Syntax
- NM_001365135.2:c.1132-341G>A
- ClinVar RefSeq Alternation Syntax
- NM_000543.5:c.1152G>A
- ClinVar RefSeq Alternation Syntax
- NM_001318087.2:c.1152G>A
- ClinVar RefSeq Alternation Syntax
- NM_001318088.2:c.231G>A
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2017-03-03
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000596113
- ClinVar Disease
- not provided
- Observed Origin Sample
- germline
Drugs