Annotation Detail
Information
- Associated Genes
- XRCC2
- Associated Variants
-
XRCC2 p.Arg188His (p.R188H)
(
ENST00000359321.2,
ENST00000698506.1 )
XRCC2 p.Arg188His (p.R188H) ( ENST00000359321.2, ENST00000698506.1 ) - Associated Disease
- Fanconi anemia complementation group U
- Source Database
- ClinVar
- Description
- NM_005431.2(XRCC2):c.563G>A (p.Arg188His) AND Fanconi anemia complementation group U
- ClinVar Allele ID
- 474617
- ClinVar RefSeq Alternation Syntax
- NM_005431.2:c.563G>A
- Clinical Significance Description
- Benign
- Clinical Significance Last Update
- 2023-07-07
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV003316748
- ClinVar Disease
- Fanconi anemia complementation group U
- Observed Origin Sample
- germline
Drugs