Annotation Detail
Information
- Associated Genes
- RAD51C
- Associated Variants
-
RAD51C p.Thr78Ile (p.T78I)
(
ENST00000337432.9,
ENST00000583539.5,
ENST00000461271.6,
ENST00000421782.3,
ENST00000697686.1,
ENST00000697690.1,
ENST00000697694.1 )
RAD51C p.Thr78Ile (p.T78I) ( ENST00000337432.9, ENST00000421782.3, ENST00000461271.6, ENST00000583539.5, ENST00000697686.1, ENST00000697690.1, ENST00000697694.1 ) - Associated Disease
- Fanconi anemia complementation group O
- Source Database
- ClinVar
- Description
- NM_058216.3(RAD51C):c.233C>T (p.Thr78Ile) AND Fanconi anemia complementation group O
- ClinVar Allele ID
- 242828
- ClinVar RefSeq Alternation Syntax
- NM_058216.3:c.233C>T
- ClinVar RefSeq Alternation Syntax
- NM_002876.4:c.233C>T
- ClinVar RefSeq Alternation Syntax
- NR_103872.2:n.275C>T
- ClinVar RefSeq Alternation Syntax
- NR_103873.1:n.201C>T
- Clinical Significance Description
- Uncertain significance
- Clinical Significance Last Update
- 2024-01-27
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000231279
- ClinVar Disease
- Fanconi anemia complementation group O
- Observed Origin Sample
- germline
Drugs