Rs41293455

rs41293455 is a SNP causing an amino acid change in the breast cancer 1 BRCA1 gene at amino position 1443. The more common rs41293455(C) allele encodes Arg, while the rare rs41293455(T) allele encodes a stop codon. Another variant, rs41293455(G), encodes a Gly.

A well known study published in 1994 looked at 50 family pedigrees with breast cancer and ovarian cancer susceptibility, discovering what they believed were eight putative disease-causing mutations (four frameshifts, two nonsense mutations) and an additional two missense mutations. rs41293455 was one of these variants.


 * See also Omim 113705.0016
 * See also Omim 113705.0017


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