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.

4 entries on 1 page. Showing entries 1 - 4.
Legend   How to query  

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.44T>C r.(?) p.Ile15Thr - Unknown - NA g.41276070A>G g.43124053A>G I15T - BRCA1_000009 evolutionary conservation analysis; predicted deleterious PubMed: Abkevich 2004 - - In vitro (cloned) - - - 0 - - - - - - - - - - - - - - - - - - -
?/. 2 c.44T>C r.(?) p.Ile15Thr - Unknown - NA g.41276070A>G g.43124053A>G I15T - BRCA1_000009 E3 Ub-ligase activity assay BRCA1/RING-BARD1; as variant control PubMed: Morris 2006 - - In vitro (cloned) - - - 0 - - - - - - - - - - - - - - - - - - -
-/. 2 c.44T>C r.(?) p.Ile15Thr - Unknown - NA g.41276070A>G g.43124053A>G I15T - BRCA1_000009 peptide binding ability BRCA1/RING-BARD1; as wildtype control PubMed: Sarkar and Magliery 2008 - - In vitro (cloned) - - - 0 - - - - - - - - - - - - - - - - - - -
?/. 2 c.44T>C r.(?) p.(Ile15Thr) - Parent #1 - VUS g.41276070A>G g.43124053A>G - - BRCA1_000009 not in 11241 controls PubMed: Momozawa 2018, Journal: Momozawa 2018 - rs80357316 Germline - 1/7051 cases breast cancer - 0 - DNA SEQ - - cancer, breast 30287823-cases-F PubMed: Momozawa 2018, Journal: Momozawa 2018 analysis 7051 female breast cancer cases F - Japan - - 0 - - 1 Yukihide Momozawa
Legend   How to query