Annotation Detail
Information
- Associated Genes
- DES
- Associated Variants
-
DES p.Ala174_Arg180del (p.A174_R180del)
(
ENST00000373960.4 )
DES p.Ala174_Arg180del (p.A174_R180del) ( ENST00000373960.4 ) - Associated Disease
- Desmin-related myofibrillar myopathy
- Source Database
- ClinVar
- Description
- NM_001927.4(DES):c.521_541del (p.Ala174_Arg180del) AND Desmin-related myofibrillar myopathy
- ClinVar Allele ID
- 31862
- ClinVar RefSeq Alternation Syntax
- NM_001927.4:c.521_541del
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2009-06-01
- Clinical Significance Review Status
- no assertion criteria provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV002265560
- ClinVar Disease
- Desmin-related myofibrillar myopathy
- Observed Origin Sample
- germline
- Observed Origin Sample
- unknown
- Pubmed
- 7672786
- Pubmed
- 9736733
- Pubmed
- 19433360
Drugs