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.

6 entries on 1 page. Showing entries 1 - 6.
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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     
+/. 1i_2i c.(-20+1_-19-1)_(80+1_81-1)del r.? p.? - - pathogenic g.(41267797_41276033)_(41276133_41277287)del - - - BRCA1_001686 - - - - Germline - 1/1900 cases - 0 - Angela Solano & F Cardoso
+/. 1i_2i c.(-20+1_-19-1)_(80+1_81-1)del r.? p.? - - pathogenic g.(41267797_41276033)_(41276133_41277287)del - - - BRCA1_001686 - - - - Germline - 1/1900 cases - 0 - Angela Solano & F Cardoso
+/. 1i_2i c.(-20+1_-19-1)_(80+1_81-1)del r.? p.0? - - pathogenic g.(41267797_41276033)_(41276133_41277287)del - c.-19-?_80+?del - BRCA1_001686 - Journal: Rebbeck 2018 - - Germline - - - 0 - Johan den Dunnen
+/. 1i_2i c.(-20+1_-19-1)_(80+1_81-1)del r.? p.0? - - pathogenic g.(41267797_41276033)_(41276133_41277287)del - c.-19-?_80+?del - BRCA1_001686 - Journal: Rebbeck 2018 - - Germline - - - 0 - Johan den Dunnen
+/. 1i_2i c.(-20+1_-19-1)_(80+1_81-1)del r.? p.0? - - pathogenic g.(41267797_41276033)_(41276133_41277287)del - c.-19-?_80+?del - BRCA1_001686 - Journal: Rebbeck 2018 - - Germline - - - 0 - Johan den Dunnen
+/. 1i_2i c.(-20+1_-19-1)_(80+1_81-1)del r.? p.0? - - pathogenic g.(41267797_41276033)_(41276133_41277287)del - c.-19-?_80+?del - BRCA1_001686 - Journal: Rebbeck 2018 - - Germline - - - 0 - Johan den Dunnen
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