Annotation Detail
Information
- Associated Genes
- RAD51C
- Associated Variants
-
RAD51C p.Arg12= (p.R12=)
(
ENST00000583539.5,
ENST00000421782.3,
ENST00000461271.6,
ENST00000337432.9,
ENST00000697686.1,
ENST00000697690.1 )
RAD51C p.Arg12= (p.R12=) ( ENST00000337432.9, ENST00000421782.3, ENST00000461271.6, ENST00000583539.5, ENST00000697686.1, ENST00000697690.1 ) - Associated Disease
- Fanconi anemia complementation group O
- Source Database
- ClinVar
- Description
- NM_058216.3(RAD51C):c.36G>A (p.Arg12=) AND Fanconi anemia complementation group O
- ClinVar Allele ID
- 478824
- ClinVar RefSeq Alternation Syntax
- NR_103872.2:n.78G>A
- ClinVar RefSeq Alternation Syntax
- NR_103873.1:n.107G>A
- ClinVar RefSeq Alternation Syntax
- NM_058216.3:c.36G>A
- ClinVar RefSeq Alternation Syntax
- NM_002876.4:c.36G>A
- Clinical Significance Description
- Likely benign
- Clinical Significance Last Update
- 2023-04-12
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV001494386
- ClinVar Disease
- Fanconi anemia complementation group O
- Observed Origin Sample
- germline
Drugs