Annotation Detail
Information
- Associated Genes
- BRCA2
- Associated Variants
-
BRCA2 p.Glu1550Ter (p.E1550*)
(
ENST00000380152.8,
ENST00000544455.6,
ENST00000530893.7,
ENST00000713678.1,
ENST00000713680.1,
ENST00000700202.2 )
BRCA2 p.Glu1550Ter (p.E1550*) ( ENST00000380152.8, ENST00000530893.7, ENST00000544455.6, ENST00000700202.2, ENST00000713678.1, ENST00000713680.1 ) - Associated Disease
- Fanconi anemia
- Source Database
- ClinVar
- Description
- NM_000059.4(BRCA2):c.4648G>T (p.Glu1550Ter) AND Fanconi anemia
- ClinVar Allele ID
- 24383
- ClinVar RefSeq Alternation Syntax
- NM_000059.4:c.4648G>T
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2021-06-27
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV001530923
- ClinVar Disease
- Fanconi anemia
- Observed Origin Sample
- germline
Drugs