Annotation Detail
Information
- Associated Genes
- DES
- Associated Variants
-
DES p.Ile451Met (p.I451M)
(
ENST00000373960.4 )
DES p.Ile451Met (p.I451M) ( ENST00000373960.4 ) - Associated Disease
- Desmin-related myofibrillar myopathy
- Source Database
- ClinVar
- Description
- NM_001927.4(DES):c.1353C>G (p.Ile451Met) AND Desmin-related myofibrillar myopathy
- ClinVar Allele ID
- 31863
- ClinVar RefSeq Alternation Syntax
- NM_001927.4:c.1353C>G
- Clinical Significance Description
- Uncertain significance
- Clinical Significance Last Update
- 2024-01-28
- Clinical Significance Review Status
- criteria provided, multiple submitters, no conflicts
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000698481
- ClinVar Disease
- Desmin-related myofibrillar myopathy
- Observed Origin Sample
- germline
Drugs