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.

7 entries on 1 page. Showing entries 1 - 7.
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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.-7620_80+468delins(8) r.0? p.0? - - pathogenic g.41275566_41284888delins(8) - -7621_80+468delins9 - BRCA1_001199 - - - - Unknown ? - - 0 - Juul Wijnen
+/. _1_2i c.-7620_80+468delins(8) r.? p.? - - pathogenic g.41275566_41284888delins(8) - -7620_80+468delins8 - BRCA1_001199 - - - - Germline - - - 0 - Ans M.W. van den Ouweland
+/. _1_2i c.-7620_80+468delins(8) r.? p.? - - pathogenic g.41275566_41284888delins(8) - -7620_80+468delins8 - BRCA1_001199 - - - - Germline - - - 0 - Ans M.W. van den Ouweland
+/. _1_2i c.-7620_80+468delins(8) r.? p.? - - pathogenic g.41275566_41284888delins(8) - -7620_80+468delins8 - BRCA1_001199 - - - - Germline - - - 0 - Ans M.W. van den Ouweland
+/. _1_2i c.-7620_80+468delins(8) r.? p.? - - pathogenic g.41275566_41284888delins(8) - -7620_80+468delins8 - BRCA1_001199 - - - - Germline - - - 0 - Ans M.W. van den Ouweland
+/. _1_2i c.-7620_80+468delins(8) r.? p.? - - pathogenic g.41275566_41284888delins(8) - -7620_80+468delins8 - BRCA1_001199 - - - - Germline - - - 0 - Ans M.W. van den Ouweland
+/. _1_2i c.-7620_80+468delins(8) r.? p.? - - pathogenic g.41275566_41284888delins(8) - -7620_80+468delins8 - BRCA1_001199 - - - - Germline - - - 0 - Ans M.W. van den Ouweland
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