Annotation Detail
Information
- Associated Genes
- DES
- Associated Variants
-
DES p.Leu385Pro (p.L385P)
(
ENST00000373960.4 )
DES p.Leu385Pro (p.L385P) ( ENST00000373960.4 ) - Associated Disease
- Desmin-related myofibrillar myopathy
- Source Database
- ClinVar
- Description
- NM_001927.4(DES):c.1154T>C (p.Leu385Pro) AND Desmin-related myofibrillar myopathy
- ClinVar Allele ID
- 31868
- ClinVar RefSeq Alternation Syntax
- NM_001927.4:c.1154T>C
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2000-10-10
- Clinical Significance Review Status
- no assertion criteria provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV002265562
- ClinVar Disease
- Desmin-related myofibrillar myopathy
- Observed Origin Sample
- germline
- Pubmed
- 11061256
Drugs