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.

3 entries on 1 page. Showing entries 1 - 3.
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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_21i c.-232_(5332+1_5333-1){0} r.? p.? - ACMG pathogenic (dominant) g.(41201212_41203079)_(41277500_?)del - del ex1-21 - BRCA1_001664 - PubMed: Evans 2022 - - Germline - - - 0 - Johan den Dunnen
+/. _1_21i c.-232_(5332+1_5333-1){0} r.0? p.0? - - pathogenic g.(41201212_41203079)_(41277500_?)del - c.-232-?_5332+?del - BRCA1_001664 - Journal: Rebbeck 2018 - - Germline - - - 0 - Johan den Dunnen
+/. _1_21i c.-232_(5332+1_5333-1){0} r.0? p.0? - - pathogenic g.(41201212_41203079)_(41277500_?)del - c.-232-?_5332+?del - BRCA1_001664 - Journal: Rebbeck 2018 - - Germline - - - 0 - Johan den Dunnen
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