Annotation Detail
Information
- Associated Genes
- DES
- Associated Variants
-
DES p.Arg429Ter (p.R429*)
(
ENST00000373960.4 )
DES p.Arg429Ter (p.R429*) ( ENST00000373960.4 ) - Associated Disease
- Primary dilated cardiomyopathy Desmin-related myofibrillar myopathy neuromuscular disease
- Source Database
- ClinVar
- Description
- NM_001927.4(DES):c.1285C>T (p.Arg429Ter) AND multiple conditions
- ClinVar Allele ID
- 173633
- ClinVar RefSeq Alternation Syntax
- NM_001927.4:c.1285C>T
- Clinical Significance Description
- Likely pathogenic
- Clinical Significance Last Update
- 2013-06-12
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000154519
- ClinVar Disease
- Desmin-related myofibrillar myopathy
- ClinVar Disease
- Neuromuscular disease
- ClinVar Disease
- Primary dilated cardiomyopathy
- Observed Origin Sample
- germline
Drugs