Annotation Detail
Information
- Associated Genes
- DES
- Associated Variants
-
DES p.Ile451= (p.I451=)
(
ENST00000373960.4 )
DES p.Ile451= (p.I451=) ( ENST00000373960.4 ) - Associated Disease
- not provided
- Source Database
- ClinVar
- Description
- NM_001927.4(DES):c.1353C>T (p.Ile451=) AND not provided
- ClinVar Allele ID
- 228924
- ClinVar RefSeq Alternation Syntax
- NM_001927.4:c.1353C>T
- Clinical Significance Description
- Conflicting interpretations of pathogenicity
- Clinical Significance Last Update
- 2015-09-10
- Clinical Significance Review Status
- criteria provided, conflicting interpretations
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000725063
- ClinVar Disease
- not provided
- Observed Origin Sample
- germline
Drugs