Annotation Detail
Information
- Associated Genes
- BRIP1
- Associated Variants
-
BRIP1 p.Asp1138Gly (p.D1138G)
(
ENST00000682755.1,
ENST00000682989.1,
ENST00000683039.1,
ENST00000682453.1,
ENST00000259008.7 )
BRIP1 p.Asp1138Gly (p.D1138G) ( ENST00000259008.7, ENST00000682453.1, ENST00000682755.1, ENST00000682989.1, ENST00000683039.1 ) - Associated Disease
- Fanconi anemia complementation group J Familial cancer of breast
- Source Database
- ClinVar
- Description
- NM_032043.3(BRIP1):c.3413A>G (p.Asp1138Gly) AND multiple conditions
- ClinVar Allele ID
- 361023
- ClinVar RefSeq Alternation Syntax
- NM_032043.3:c.3413A>G
- Clinical Significance Description
- Uncertain significance
- Clinical Significance Last Update
- 2018-09-08
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000814484
- ClinVar Disease
- Fanconi anemia complementation group J
- ClinVar Disease
- Familial cancer of breast
- Observed Origin Sample
- germline
Drugs