rs121918219
×
Entrez Id:
81839
Gene Symbol:
VANGL1
VANGL1
NEURAL TUBE DEFECTS, SUSCEPTIBILITY TO
0.800
GeneticVariation
UNIPROT
Novel mutations in VANGL1 in neural tube defects.
19319979
2009
rs121918220
×
Entrez Id:
81839
Gene Symbol:
VANGL1
VANGL1
NEURAL TUBE DEFECTS, SUSCEPTIBILITY TO
0.800
GeneticVariation
UNIPROT
Novel mutations in VANGL1 in neural tube defects.
19319979
2009
rs761123443
×
Entrez Id:
81839
Gene Symbol:
VANGL1
VANGL1
NEURAL TUBE DEFECTS, SUSCEPTIBILITY TO
0.800
GeneticVariation
UNIPROT
Novel mutations in VANGL1 in neural tube defects.
19319979
2009
rs121918219
×
Entrez Id:
81839
Gene Symbol:
VANGL1
VANGL1
NEURAL TUBE DEFECTS, SUSCEPTIBILITY TO
0.800
GeneticVariation
UNIPROT
Mutations in VANGL1 associated with neural-tube defects.
17409324
2007
rs121918220
×
Entrez Id:
81839
Gene Symbol:
VANGL1
VANGL1
NEURAL TUBE DEFECTS, SUSCEPTIBILITY TO
0.800
GeneticVariation
UNIPROT
Mutations in VANGL1 associated with neural-tube defects.
17409324
2007
rs761123443
×
Entrez Id:
81839
Gene Symbol:
VANGL1
VANGL1
NEURAL TUBE DEFECTS, SUSCEPTIBILITY TO
0.800
GeneticVariation
UNIPROT
Mutations in VANGL1 associated with neural-tube defects.
17409324
2007
rs121918219
×
Entrez Id:
81839
Gene Symbol:
VANGL1
VANGL1
NEURAL TUBE DEFECTS, SUSCEPTIBILITY TO
A
0.800
SusceptibilityMutation
CLINVAR
rs121918220
×
Entrez Id:
81839
Gene Symbol:
VANGL1
VANGL1
NEURAL TUBE DEFECTS, SUSCEPTIBILITY TO
C
0.800
SusceptibilityMutation
CLINVAR
rs761123443
×
Entrez Id:
81839
Gene Symbol:
VANGL1
VANGL1
NEURAL TUBE DEFECTS, SUSCEPTIBILITY TO
A
0.800
SusceptibilityMutation
CLINVAR
rs146695372
×
Entrez Id:
81839
Gene Symbol:
VANGL1
VANGL1
NEURAL TUBE DEFECTS, SUSCEPTIBILITY TO
0.700
GeneticVariation
UNIPROT
Novel mutations in VANGL1 in neural tube defects.
19319979
2009
rs121918218
×
Entrez Id:
81839
Gene Symbol:
VANGL1
VANGL1
Sacral defect and anterior sacral meningocele
0.700
GeneticVariation
UNIPROT
Mutations in VANGL1 associated with neural-tube defects.
17409324
2007
rs146695372
×
Entrez Id:
81839
Gene Symbol:
VANGL1
VANGL1
NEURAL TUBE DEFECTS, SUSCEPTIBILITY TO
0.700
GeneticVariation
UNIPROT
Mutations in VANGL1 associated with neural-tube defects.
17409324
2007
rs121918218
×
Entrez Id:
81839
Gene Symbol:
VANGL1
VANGL1
Caudal Regression Syndrome
A
0.700
CausalMutation
CLINVAR
rs775571796
×
Entrez Id:
81839
Gene Symbol:
VANGL1
VANGL1
NEURAL TUBE DEFECTS, SUSCEPTIBILITY TO
0.700
GeneticVariation
UNIPROT
rs148512517
×
Entrez Id:
81839
Gene Symbol:
VANGL1
VANGL1
Neural Tube Defects
0.010
GeneticVariation
BEFREE
We identified three heterozygous missense variants in VANGL1, p.Ala187Val, p.Asp389His, and p.Arg517His , that are absent in controls and predicted to be detrimental on the protein function and, thus, we expanded the mutational spectrum of VANGL1 in NTD cases.
25208524
2015
rs121918219
×
Entrez Id:
81839
Gene Symbol:
VANGL1
VANGL1
Neural Tube Defects
0.010
GeneticVariation
BEFREE
Of interest are two arginine residues, R181 and R274, that are highly conserved in Vangl protein homologues and found to be independently mutated in VANGL1 (R181Q and R274Q ) and VANGL2 (R177H and R270H) in human cases of NTD s.
25068569
2014
rs34059106
×
Entrez Id:
81839
Gene Symbol:
VANGL1
VANGL1
Neural Tube Defects
0.010
GeneticVariation
BEFREE
And genotype GC increased the risk of NTD s, changes in the three-dimensional protein structure may have impacted its biological functions, and the rs34059106 polymorphism had no significant correlation with NTD s.
24407469
2014
rs4839469
×
Entrez Id:
81839
Gene Symbol:
VANGL1
VANGL1
Neural Tube Defects
0.010
GeneticVariation
BEFREE
Therefore, the rs4839469 allele of VANGL1 was obviously associated with NTD s.
24407469
2014
rs761123443
×
Entrez Id:
81839
Gene Symbol:
VANGL1
VANGL1
Neural Tube Defects
0.010
GeneticVariation
BEFREE
Of interest are two arginine residues, R181 and R274, that are highly conserved in Vangl protein homologues and found to be independently mutated in VANGL1 (R181Q and R274Q) and VANGL2 (R177H and R270H) in human cases of NTD s.
25068569
2014