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.

5 entries on 1 page. Showing entries 1 - 5.
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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.-66C>G r.(?) p.(=) - - VUS g.41277334G>C g.43125317G>C - - BRCA1_001402 - - - - Unknown ? - - - - Arjen Mensenkamp
?/? 1 c.-66C>G r.(?) p.(=) - - VUS g.41277334G>C g.43125317G>C - - BRCA1_001402 - - - - Unknown ? - - - - Arjen Mensenkamp
?/? 1 c.-66C>G r.(?) p.(=) - - VUS g.41277334G>C g.43125317G>C - - BRCA1_001402 - - - - Unknown ? - - - - Marjolijn JL Ligtenberg
?/? 1 c.-66C>G r.(?) p.(=) - - VUS g.41277334G>C g.43125317G>C - - BRCA1_001402 - - - - Unknown - - - 0 - Arjen Mensenkamp
?/. 1 c.-66C>G r.(?) p.(=) - - VUS g.41277334G>C g.43125317G>C - - BRCA1_001402 not in 1103 controls PubMed: Burke 2018, Journal: Burke 2018 - - Germline - 1/6475 cases - 0 - Lez J Burke
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