rs11717284
This variant is located in the FGF12 gene.
▶Research that mentions this SNP (1)
▶Polymorphisms at Regions 1p22.1 (rs560426) and 8q24 (rs1530300) Are Risk Markers for Nonsyndromic Cleft Lip and/or Palate in the Brazilian PopulationAssociationN=685Elizabete Bagordakis et al.(2013)· American Journal of Medical Genetics Part A
A Brazilian case-control study of 300 NSCL/P patients and 385 controls tested 16 polymorphisms in FGF12, VCL, CX43, and VAX1 genes. No individual SNP alleles or genotypes showed significant association with NSCL/P. A VAX1 haplotype (rs10787760-rs6585429-rs1871345, G-A-C) showed suggestive increased frequency in NSCL/P patients (p=0.026 in all cases, p=0.033 in CLP subtype) but did not survive Bonferroni correction, suggesting VAX1 may be a low-penetrance gene for oral clefts.
About FGF12
The protein encoded by this gene is a member of the fibroblast growth factor (FGF) family. FGF family members possess broad mitogenic and cell survival activities, and are involved in a variety of biological processes, including embryonic development, cell growth, morphogenesis, tissue repair, tumor growth, and invasion. This growth factor lacks the N-terminal signal sequence present in most of the FGF family members, but it contains clusters of basic residues that have been demonstrated to act as a nuclear localization signal. When transfected into mammalian cells, this protein accumulated in the nucleus, but was not secreted. The specific function of this gene has not yet been determined. [provided by RefSeq, Dec 2019]
View all FGF12 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
Community Wiki
No community notes yet for this variant. Sign in to start one.
Comments
Sign in to join the discussion.
Loading comments…