BRCA1, BRCA1 DNA repair associated, 672

N. diseases: 747; N. variants: 2600
Disease: Fanconi Anemia ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs41293459
rs41293459
Entrez Id: 672
Gene Symbol: BRCA1
BRCA1
CUI: C0015625
Disease:
Fanconi Anemia 		0.010 GeneticVariation BEFREE Although the p.Arg1699Gln mutation compromises BRCA1 function, the residual activity of the p.Arg1699Gln allele likely prevents from chromosome fragility and a more severe FA phenotype. 31347298 2019
dbSNP: rs1055368753
rs1055368753
Entrez Id: 672
Gene Symbol: BRCA1
BRCA1
CUI: C0015625
Disease:
Fanconi Anemia 		0.010 GeneticVariation BEFREE Three of the amino acid changes, namely Thr561Met, Cys625Ser and particularly Ser1088Phe, which has been previously reported to be associated with FA, are predicted to be damaging by the SIFT and PolyPhen softwares. cDNA amplification revealed significant expression of 4 alternative splicing events (insertion of an intronic portion of intron 10, and the skipping of exons 11, 30 and 31). 23021409 2013