rs10762573
This is a intron variant variant in the VCL 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 VCL
Vinculin is a cytoskeletal protein associated with cell-cell and cell-matrix junctions, where it is thought to function as one of several interacting proteins involved in anchoring F-actin to the membrane. Defects in VCL are the cause of cardiomyopathy dilated type 1W. Dilated cardiomyopathy is a disorder characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia. Multiple alternatively spliced transcript variants have been found for this gene, but the biological validity of some variants has not been determined. [provided by RefSeq, Jul 2008]
View all VCL variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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