Annotation Detail
Information
- Associated Genes
- DES
- Associated Variants
-
DES p.Arg406Trp (p.R406W)
(
ENST00000373960.4 )
DES p.Arg406Trp (p.R406W) ( ENST00000373960.4 ) - Associated Disease
- Desmin-related myofibrillar myopathy
- Source Database
- ClinVar
- Description
- NM_001927.4(DES):c.1216C>T (p.Arg406Trp) AND Desmin-related myofibrillar myopathy
- ClinVar Allele ID
- 31865
- ClinVar RefSeq Alternation Syntax
- NM_001927.4:c.1216C>T
- Clinical Significance Description
- Pathogenic/Likely pathogenic
- Clinical Significance Last Update
- 2024-05-22
- Clinical Significance Review Status
- criteria provided, multiple submitters, no conflicts
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000627795
- ClinVar Disease
- Desmin-related myofibrillar myopathy
- Observed Origin Sample
- germline
- Observed Origin Sample
- de novo
- Observed Origin Sample
- unknown
- Pubmed
- 10905661
Drugs