Full data view for gene BRCA1

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     

Allele     

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     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
+/+ 2 c.40del r.(?) p.(Val14Serfs*9) - Parent #1 - pathogenic (dominant) g.41276074del g.43124057del - - BRCA1_004575 Variant allele predicted to encode truncated non-functional protein ENIGMA classification criteria - - SUMMARY record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. 2 c.40del r.(?) p.(Val14Serfs*9) - Parent #1 - pathogenic g.41276074del g.43124057del - - BRCA1_004575 - Journal: Rebbeck 2018 - - Germline - - - 0 - DNA SEQ - - cancer, breast, familial CIMBA-Fam? Journal: Rebbeck 2018 1 family F - France white - 0 - - 1 Johan den Dunnen
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