All variants in the BRCA1 gene

All records describing functional studies of specific variants. BRCA1 variants classified by the ENIGMA consortium.
Variants associated with Fanconi anemia
A Fanconi anemia mutation database.
Information The variants shown are described using the NM_007294.3 transcript reference sequence.

2 entries on 1 page. Showing entries 1 - 2.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Haplotype     

Classification method     

Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Owner     
+/. _1_2i c.-232_(80+1_81-1){0} r.0? p.0? - - pathogenic g.(41267797_41276033)_(41278656_?)del - del ex1a-2 - BRCA1_004864 - PubMed: Arai 2018, Journal: Arai 2018 - - Germline - - - 0 - Johan den Dunnen
+/. _1_2i c.-232_(80+1_81-1){0} r.0? p.0? - - pathogenic (dominant) g.(41267797_41276033)_(41278656_?)del - c.(?_-1387-1)_(80+1_81-1)del - BRCA1_004864 - PubMed: Santonocito 2020 - - Germline - 3/2351 cases - 0 - Johan den Dunnen
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