Rs4986852

From SNPedia

rs4986852 is a SNP causing an amino acid change in the breast cancer 1 BRCA1 gene at amino position 1040. The more common rs4986852(G) allele encodes Ser, while the rare rs4986852(A) allele encodes Asn; this variation is also known as Ser1040Asn or S1040N.

A well known study published in 1994 looked at 10 family pedigrees with breast cancer and ovarian cancer susceptibility, including 63 breast cancer patients, and discovered what they believed were seven putative disease-causing mutations. rs4986852 was one of these variants. [PMID 7894493]

• See also Omim 113705.0011