SMAD4
Gene name: SMAD family member 4OMIM ID: 600993
Chromosome location: 18q21.2
Polymorphisms
| Disease/Phenotype | Breast cancer, susceptibility to | ||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Reference transcript | NM_005359.5 | ||||||||||||||||||||
| DNA Change | c.*5131A>G | ||||||||||||||||||||
| A.A. Change | |||||||||||||||||||||
| Exon/Intron | 3' of the stop codon | ||||||||||||||||||||
| Variation Type | substitution | ||||||||||||||||||||
| Reference SNP | rs12456284 | ||||||||||||||||||||
| Cases | 226 cases | ||||||||||||||||||||
| Controls | 200 healthy women | ||||||||||||||||||||
| Frequency |
| ||||||||||||||||||||
| Reference | Marouf C, Göhler S, Filho MI, Hajji O, Hemminki K, Nadifi S, Försti A.
Analysis of functional germline variants in APOBEC3 and driver genes on breast cancer risk in Moroccan study population. BMC Cancer. 2016 Feb 26;16:165. doi: 10.1186/s12885-016-2210-8. |