From SNPedia
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. [PMID 7894491]
