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.

6 entries on 1 page. Showing entries 1 - 6.
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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.61A>G r.(?) p.Ile21Val - Unknown - NA g.41276053T>C g.43124036T>C I21V - BRCA1_000012 E3 Ub-ligase activity assay BRCA1/RING-BARD1; as wildtype control PubMed: Morris 2006 - - In vitro (cloned) - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. 2 c.61A>G r.(?) p.Ile21Val - Unknown - NA g.41276053T>C g.43124036T>C I21V - BRCA1_000012 Homology directed recombination; no impact on protein function PubMed: Ransburgh 2010 - - In vitro (cloned) - - - 0 - - - - - - - - - - - - - - - - - - -
-/. 2 c.61A>G r.(?) p.Ile21Val - Unknown - NA g.41276053T>C g.43124036T>C I21V - BRCA1_000012 protein binding ability BARD1; normal binding PubMed: Ransburgh 2010 - - In vitro (cloned) - - - 0 - - - - - - - - - - - - - - - - - - -
-/. 2 c.61A>G r.(?) p.Ile21Val - Unknown - NA g.41276053T>C g.43124036T>C I21V - BRCA1_000012 E3 Ub-ligase activity assay; as wildtype control PubMed: Ruffner 2001 - - In vitro (cloned) - - - 0 - - - - - - - - - - - - - - - - - - -
-/. 2 c.61A>G r.(?) p.Ile21Val - Unknown - NA g.41276053T>C g.43124036T>C I21V - BRCA1_000012 Radiation sensitivity; as wildtype control PubMed: Ruffner 2001 - - In vitro (cloned) - - - 0 - - - - - - - - - - - - - - - - - - -
-/. 2 c.61A>G r.(?) p.Ile21Val - Unknown - NA g.41276053T>C g.43124036T>C I21V - BRCA1_000012 peptide binding ability BRCA1/RING-BARD1; as wildtype control PubMed: Sarkar and Magliery 2008 - - In vitro (cloned) - - - 0 - - - - - - - - - - - - - - - - - - -
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