Rs41293463

rs41293463 is a SNP causing an amino acid change in the breast cancer 1 BRCA1 gene at amino position 1775. The more common rs41293463(T) allele encodes Met, while the rare rs41293463(G) allele encodes Arg.

A study found that the rs41293463(G) allele has impaired transcriptional ability, and this allele was found in some patients with breast cancer. It seems likely that primarily (G;G) homozygotes would be at increased risk for breast cancer but this has not been demonstrated.


 * See also Omim 113705.0035


 * is_associated_with_disease::Hereditary breast ovarian cancer
 * is_associated_with_disease::Breast cancer