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 c.-315del r.(=) p.(=) - - VUS g.41277586del g.43125569del - - BRCA1_005303 not in 1103 controls PubMed: Burke 2018, Journal: Burke 2018 - rs901029407 Germline - 1/6475 cases - 0 - Lez J Burke
+?/. 1 c.-315del r.(=) p.(=) - - NA g.41277586del g.43125569del - - BRCA1_005303 expression cloning luciferase assay 0.7x decreased (MCF7 cells) PubMed: Burke 2018, Journal: Burke 2018 - - In vitro (cloned) - - - 0 - Lez J Burke
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