Rs41293463
From SNPedia
| is a | snp |
| is | mentioned by |
| dbSNP | rs41293463 |
| hapmap | rs41293463 |
| hgdp | rs41293463 |
| ensembl | rs41293463 |
| gopubmed | rs41293463 |
| scholar | rs41293463 |
| rs41293463 | |
| pharmgkb | rs41293463 |
| hgvbaseg2p | rs41293463 |
| medrefsnp | rs41293463 |
| 23andMe | rs41293463 |
| SNP Nexus |
| Gene | BRCA1 |
| Chromosome | 17 |
| Orientation | minus |
| Position | 38456613 |
| Genotype | Effect |
|---|---|
| rs41293463(G;G) | predisposition to breast cancer? |
| rs41293463(G;T) | possible predisposition to breast cancer |
| rs41293463(T;T) | normal |
| Genotypes | Magnitude | Summary |
|---|---|---|
| Rs41293463(G;G) | predisposition to breast cancer? | |
| Rs41293463(G;T) | possible predisposition to breast cancer | |
| Rs41293463(T;T) | 00 | normal |
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]
- See also Omim 113705.0035
