Annotation Detail
Information
- Associated Genes
- XRCC4
- Associated Variants
-
XRCC4 p.Ala56Thr (p.A56T)
(
ENST00000282268.7,
ENST00000338635.10,
ENST00000396027.9,
ENST00000511817.1 )
XRCC4 p.Ala56Thr (p.A56T) ( ENST00000282268.7, ENST00000338635.10, ENST00000396027.9, ENST00000511817.1 ) - Associated Disease
- not provided
- Source Database
- ClinVar
- Description
- NM_003401.5(XRCC4):c.166G>A (p.Ala56Thr) AND not provided
- ClinVar Allele ID
- 1297623
- ClinVar RefSeq Alternation Syntax
- NM_001318013.2:c.166G>A
- ClinVar RefSeq Alternation Syntax
- NM_022406.5:c.166G>A
- ClinVar RefSeq Alternation Syntax
- NM_001318012.3:c.166G>A
- ClinVar RefSeq Alternation Syntax
- NM_022550.4:c.166G>A
- ClinVar RefSeq Alternation Syntax
- NM_003401.5:c.166G>A
- Clinical Significance Description
- Uncertain significance
- Clinical Significance Last Update
- 2022-10-13
- Clinical Significance Review Status
- criteria provided, multiple submitters, no conflicts
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV001763211
- ClinVar Disease
- not provided
- Observed Origin Sample
- germline
Drugs