rs751231
This is a regulatory region variant variant in the VAX1 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 VAX1
This gene encodes a homeo-domain containing protein from a class of homeobox transcription factors which are conserved in vertebrates. Genes of this family are involved in the regulation of body development and morphogenesis. The most conserved genes, called HOX genes are found in special gene clusters. This gene belongs to the VAX subfamily and lies in the vicinity of the EMX homeobox gene family. Another member of VAX family is located on chromosome 2. The encoded protein may play an important role in the development of anterior ventral forebrain and visual system. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
View all VAX1 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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