Variant: rs1057517637

present in Gene: BRCA1 present in Chromosome: 17 Position on Chromosome: 43047669 Alleles of this Variant: -/C

rs1057517637 in BRCA1 gene and BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1 PMID 10811118 2000 Functional assay for BRCA1: mutagenesis of the COOH-terminal region reveals critical residues for transcription activation.

PMID 26911350 2016 Detection of high frequency of mutations in a breast and/or ovarian cancer cohort: implications of embracing a multi-gene panel in molecular diagnosis in India.