Annotation Detail
Information
- Associated Genes
- DES
- Associated Variants
-
DES c.639+4_639+5delAG
(
ENST00000373960.4 )
DES c.639+4_639+5delAG ( ENST00000373960.4 ) - Associated Disease
- Desmin-related myofibrillar myopathy
- Source Database
- ClinVar
- Description
- NM_001927.4(DES):c.639+4_639+5del AND Desmin-related myofibrillar myopathy
- ClinVar Allele ID
- 178397
- ClinVar RefSeq Alternation Syntax
- NM_001927.4:c.639+4_639+5del
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2014-11-19
- Clinical Significance Review Status
- no assertion criteria provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV002265630
- ClinVar Disease
- Desmin-related myofibrillar myopathy
- Observed Origin Sample
- de novo
Drugs