Annotation Detail
Information
- Associated Genes
- DES
- Associated Variants
-
DES p.Asn393Ile (p.N393I)
(
ENST00000373960.4 )
DES p.Asn393Ile (p.N393I) ( ENST00000373960.4 ) - Source Database
- ClinVar
- Description
- NM_001927.4(DES):c.1178A>T (p.Asn393Ile) AND Cardiovascular phenotype
- ClinVar Allele ID
- 31861
- ClinVar RefSeq Alternation Syntax
- NM_001927.4:c.1178A>T
- Clinical Significance Description
- Uncertain significance
- Clinical Significance Last Update
- 2022-09-27
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV003162255
- Observed Origin Sample
- germline
Drugs