Annotation Detail
Information
- Associated Genes
- BRCA2
- Associated Variants
-
BRCA2 p.Asn1544ThrfsTer24 (p.N1544Tfs*24)
(
ENST00000713680.1,
ENST00000713678.1,
ENST00000700202.2,
ENST00000544455.6,
ENST00000380152.8,
ENST00000530893.7 )
BRCA2 p.Asn1544ThrfsTer24 (p.N1544Tfs*24) ( ENST00000380152.8, ENST00000530893.7, ENST00000544455.6, ENST00000700202.2, ENST00000713678.1, ENST00000713680.1 ) - Associated Disease
- Fanconi anemia complementation group D1 hereditary breast ovarian cancer syndrome
- Source Database
- ClinVar
- Description
- NM_000059.4(BRCA2):c.4631del (p.Asn1544fs) AND multiple conditions
- ClinVar Allele ID
- 46469
- ClinVar RefSeq Alternation Syntax
- NM_000059.4:c.4631del
- Clinical Significance Description
- not provided
- Clinical Significance Review Status
- no assertion provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV001535778
- ClinVar Disease
- Fanconi anemia complementation group D1
- ClinVar Disease
- Hereditary breast ovarian cancer syndrome
- Observed Origin Sample
- unknown
Drugs