Annotation Detail
Information
- Associated Genes
- DES
- Associated Variants
-
DES p.Ser13Phe (p.S13F)
(
ENST00000373960.4 )
DES p.Ser13Phe (p.S13F) ( ENST00000373960.4 ) - Associated Disease
- Primary dilated cardiomyopathy
- Source Database
- ClinVar
- Description
- NM_001927.4(DES):c.38C>T (p.Ser13Phe) AND Primary dilated cardiomyopathy
- ClinVar Allele ID
- 53427
- ClinVar RefSeq Alternation Syntax
- NM_001927.4:c.38C>T
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2011-09-07
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000037240
- ClinVar Disease
- Primary dilated cardiomyopathy
- Observed Origin Sample
- germline
Drugs