Annotation Detail
Information
- Associated Genes
- DES
- Associated Variants
-
DES p.Ala337Thr (p.A337T)
(
ENST00000373960.4 )
DES p.Ala337Thr (p.A337T) ( ENST00000373960.4 ) - Associated Disease
- Desmin-related myofibrillar myopathy
- Source Database
- ClinVar
- Description
- NM_001927.4(DES):c.1009G>A (p.Ala337Thr) AND Desmin-related myofibrillar myopathy
- ClinVar Allele ID
- 366441
- ClinVar RefSeq Alternation Syntax
- NM_001927.4:c.1009G>A
- Clinical Significance Description
- Uncertain significance
- Clinical Significance Last Update
- 2024-01-09
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000695966
- ClinVar Disease
- Desmin-related myofibrillar myopathy
- Observed Origin Sample
- germline
Drugs