Annotation Detail
Information
- Associated Genes
- DES
- Associated Variants
-
DES p.Lys201ArgfsTer20 (p.K201Rfs*20)
(
ENST00000373960.4 )
DES p.Lys201ArgfsTer20 (p.K201Rfs*20) ( ENST00000373960.4 ) - Associated Disease
- Primary dilated cardiomyopathy neuromuscular disease
- Source Database
- ClinVar
- Description
- NM_001927.4(DES):c.600del (p.Lys201fs) AND multiple conditions
- ClinVar Allele ID
- 173493
- ClinVar RefSeq Alternation Syntax
- NM_001927.4:c.600del
- Clinical Significance Description
- Likely pathogenic
- Clinical Significance Last Update
- 2012-10-05
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000155417
- ClinVar Disease
- Neuromuscular disease
- ClinVar Disease
- Primary dilated cardiomyopathy
- Observed Origin Sample
- germline
Drugs