Annotation Detail
Information
- Associated Genes
- DES
- Associated Variants
-
DES p.Ile451= (p.I451=)
(
ENST00000373960.4 )
DES p.Ile451= (p.I451=) ( ENST00000373960.4 ) - Associated Disease
- cardiomyopathy
- Source Database
- ClinVar
- Description
- NM_001927.4(DES):c.1353C>T (p.Ile451=) AND Cardiomyopathy
- ClinVar Allele ID
- 228924
- ClinVar RefSeq Alternation Syntax
- NM_001927.4:c.1353C>T
- Clinical Significance Description
- Benign
- Clinical Significance Last Update
- 2021-05-03
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV001798700
- ClinVar Disease
- Cardiomyopathy
- Observed Origin Sample
- germline
Drugs