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.

4 entries on 1 page. Showing entries 1 - 4.
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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.-61C>T r.(?) p.(=) - - VUS g.41277329G>A g.43125312G>A - - BRCA1_001401 - - - - Unknown ? - - - - Marjolijn JL Ligtenberg
?/. 1 c.-61C>T r.(?) p.(=) - - VUS g.41277329G>A g.43125312G>A - - BRCA1_001401 not in 1103 controls PubMed: Burke 2018, Journal: Burke 2018 - rs549332987 Germline - 1/6475 cases - 0 - Lez J Burke
-?/. - c.-61C>T r.(?) p.(=) - - likely benign g.41277329G>A g.43125312G>A BRCA1(NM_007294.3):c.-61C>T - BRCA1_001401 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. - c.-61C>T r.(?) p.(=) - - likely benign g.41277329G>A - BRCA1(NM_007294.3):c.-61C>T - BRCA1_001401 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_NKI
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