Annotation Detail
Information
- Associated Genes
- CHUK
- Associated Variants
-
CHUK p.Val268Ile (p.V268I)
(
ENST00000370397.8 )
CHUK p.Val268Ile (p.V268I) ( ENST00000370397.8 ) - Associated Disease
- not provided
- Source Database
- ClinVar
- Description
- NM_001278.5(CHUK):c.802G>A (p.Val268Ile) AND not provided
- ClinVar Allele ID
- 1211645
- ClinVar RefSeq Alternation Syntax
- NM_001278.5:c.802G>A
- ClinVar RefSeq Alternation Syntax
- NM_001320928.2:c.802G>A
- Clinical Significance Description
- Benign
- Clinical Significance Last Update
- 2024-01-31
- Clinical Significance Review Status
- criteria provided, multiple submitters, no conflicts
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV001597437
- ClinVar Disease
- not provided
- Observed Origin Sample
- germline
Drugs