Annotation Detail
Information
- Associated Genes
- DES
- Associated Variants
-
DES p.Asn342Asp (p.N342D)
(
ENST00000373960.4 )
DES p.Asn342Asp (p.N342D) ( ENST00000373960.4 ) - Associated Disease
- Desmin-related myofibrillar myopathy
- Source Database
- ClinVar
- Description
- NM_001927.4(DES):c.1024A>G (p.Asn342Asp) AND Desmin-related myofibrillar myopathy
- ClinVar Allele ID
- 77285
- ClinVar RefSeq Alternation Syntax
- NM_001927.4:c.1024A>G
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2016-12-27
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV001380949
- ClinVar Disease
- Desmin-related myofibrillar myopathy
- Observed Origin Sample
- germline
- Pubmed
- 20423733
Drugs