Annotation Detail
Information
- Associated Genes
- DES
- Associated Variants
-
DES p.Thr442Ile (p.T442I)
(
ENST00000373960.4 )
DES p.Thr442Ile (p.T442I) ( ENST00000373960.4 ) - Associated Disease
- Desmin-related myofibrillar myopathy
- Source Database
- ClinVar
- Description
- NM_001927.4(DES):c.1325C>T (p.Thr442Ile) AND Desmin-related myofibrillar myopathy
- ClinVar Allele ID
- 31873
- ClinVar RefSeq Alternation Syntax
- NM_001927.4:c.1325C>T
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2018-12-10
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000811753
- ClinVar Disease
- Desmin-related myofibrillar myopathy
- Observed Origin Sample
- germline
- Pubmed
- 17221859
Drugs