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.

9 entries on 1 page. Showing entries 1 - 9.
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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.-54G>A r.(?) p.(=) - - VUS g.41277322C>T g.43125305C>T - - BRCA1_000600 - - - - Unknown ? - - - - Arjen Mensenkamp
?/? 1 c.-54G>A r.(?) p.(=) - - VUS g.41277322C>T g.43125305C>T - - BRCA1_000600 - - - - Unknown ? - - - - Arjen Mensenkamp
?/. 1 c.-54G>A r.(?) p.(=) - - VUS g.41277322C>T g.43125305C>T - - BRCA1_000600 - - - - Unknown - - - 0 - Juul Wijnen
?/. 1 c.-54G>A r.(?) p.(=) - - VUS g.41277322C>T g.43125305C>T - - BRCA1_000600 - - - - Unknown - - - 0 - Juul Wijnen
?/. 1 c.-54G>A r.(?) p.(=) - - VUS g.41277322C>T g.43125305C>T - - BRCA1_000600 - - - - Unknown - - - 0 - Juul Wijnen
?/. 1 c.-54G>A r.(?) p.(=) - - VUS g.41277322C>T g.43125305C>T - - BRCA1_000600 - - - - Germline - - - 0 - Katrien Storm
?/. 1 c.-54G>A r.(?) p.(=) - - VUS g.41277322C>T g.43125305C>T - - BRCA1_000600 - - - - Germline - - - 0 - Katrien Storm
-?/. 1 c.-54G>A r.(?) p.(=) - - likely benign g.41277322C>T g.43125305C>T - - BRCA1_000600 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
?/. 1 c.-54G>A r.(?) p.(=) - - VUS g.41277322C>T g.43125305C>T - - BRCA1_000600 not in 1103 controls PubMed: Burke 2018, Journal: Burke 2018 - - Germline - 1/6475 cases - 0 - Lez J Burke
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