Annotation Detail
Information
- Associated Genes
- BRCA2
- Associated Variants
-
BRCA2 p.Asn1784HisfsTer2 (p.N1784Hfs*2)
(
ENST00000380152.8,
ENST00000544455.6,
ENST00000530893.7,
ENST00000713678.1,
ENST00000713680.1,
ENST00000700202.2 )
BRCA2 p.Asn1784HisfsTer2 (p.N1784Hfs*2) ( ENST00000380152.8, ENST00000530893.7, ENST00000544455.6, ENST00000700202.2, ENST00000713678.1, ENST00000713680.1 ) - Associated Disease
- Fanconi anemia complementation group D1
- Source Database
- ClinVar
- Description
- NM_000059.4(BRCA2):c.5350_5351del (p.Asn1784fs) AND Fanconi anemia complementation group D1
- ClinVar Allele ID
- 46515
- ClinVar RefSeq Alternation Syntax
- NM_000059.4:c.5350_5351del
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2022-02-01
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV002243676
- ClinVar Disease
- Fanconi anemia complementation group D1
- Observed Origin Sample
- maternal
Drugs