Annotation Detail
Information
- Associated Genes
- DES
- Associated Variants
-
DES p.Ser13Phe (p.S13F)
(
ENST00000373960.4 )
DES p.Ser13Phe (p.S13F) ( ENST00000373960.4 ) - Associated Disease
- Desmin-related myofibrillar myopathy
- Source Database
- ClinVar
- Description
- NM_001927.4(DES):c.38C>T (p.Ser13Phe) AND Desmin-related myofibrillar myopathy
- ClinVar Allele ID
- 53427
- ClinVar RefSeq Alternation Syntax
- NM_001927.4:c.38C>T
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2022-03-16
- Clinical Significance Review Status
- criteria provided, multiple submitters, no conflicts
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV001389153
- ClinVar Disease
- Desmin-related myofibrillar myopathy
- Observed Origin Sample
- germline
- Pubmed
- 18061454
- Pubmed
- 17720647
- Pubmed
- 19879535
Drugs