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. [PMID 8942979]


Parent Gene: BRCA1

Importance: 1
Less common allele: None = None
More common allele: None = None
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