rs147232392
×
Entrez Id:
7547
Gene Symbol:
ZIC3
ZIC3
Double Outlet Right Ventricle
0.010
GeneticVariation
BEFREE
Three potentially disease-related missense mutations were detected: c.49G > T (Gly17Cys ) in a female with isolated DORV , c.98C > T (Ala33Val) in a male with isolated d-TGA, and c.841C > T (His281Tyr) in a female with sporadic heterotaxy.
23427188
2013
rs147232392
×
Entrez Id:
7547
Gene Symbol:
ZIC3
ZIC3
Situs ambiguus
0.010
GeneticVariation
BEFREE
Three potentially disease-related missense mutations were detected: c.49G > T (Gly17Cys ) in a female with isolated DORV, c.98C > T (Ala33Val) in a male with isolated d-TGA, and c.841C > T (His281Tyr) in a female with sporadic heterotaxy .
23427188
2013
rs201398331
×
Entrez Id:
7547
Gene Symbol:
ZIC3
ZIC3
Double Outlet Right Ventricle
0.010
GeneticVariation
BEFREE
Three potentially disease-related missense mutations were detected: c.49G > T (Gly17Cys) in a female with isolated DORV , c.98C > T (Ala33Val ) in a male with isolated d-TGA, and c.841C > T (His281Tyr) in a female with sporadic heterotaxy.
23427188
2013
rs201398331
×
Entrez Id:
7547
Gene Symbol:
ZIC3
ZIC3
Situs ambiguus
0.010
GeneticVariation
BEFREE
Three potentially disease-related missense mutations were detected: c.49G > T (Gly17Cys) in a female with isolated DORV, c.98C > T (Ala33Val ) in a male with isolated d-TGA, and c.841C > T (His281Tyr) in a female with sporadic heterotaxy .
23427188
2013
rs104894963
×
Entrez Id:
7547
Gene Symbol:
ZIC3
ZIC3
HETEROTAXY, VISCERAL, 1, X-LINKED
0.700
GeneticVariation
UNIPROT
Genetic and functional analyses of ZIC3 variants in congenital heart disease.
24123890
2014
rs373628598
×
Entrez Id:
7547
Gene Symbol:
ZIC3
ZIC3
HETEROTAXY, VISCERAL, 1, X-LINKED
0.700
GeneticVariation
UNIPROT
Genetic and functional analyses of ZIC3 variants in congenital heart disease.
24123890
2014
rs104894963
×
Entrez Id:
7547
Gene Symbol:
ZIC3
ZIC3
HETEROTAXY, VISCERAL, 1, X-LINKED
0.700
GeneticVariation
UNIPROT
Functional and structural basis of the nuclear localization signal in the ZIC3 zinc finger domain.
18716025
2008
rs104894963
×
Entrez Id:
7547
Gene Symbol:
ZIC3
ZIC3
HETEROTAXY, VISCERAL, 1, X-LINKED
0.700
GeneticVariation
UNIPROT
Characterization of the interactions of human ZIC3 mutants with GLI3.
17764085
2008
rs373628598
×
Entrez Id:
7547
Gene Symbol:
ZIC3
ZIC3
HETEROTAXY, VISCERAL, 1, X-LINKED
0.700
GeneticVariation
UNIPROT
Characterization of the interactions of human ZIC3 mutants with GLI3.
17764085
2008
rs104894963
×
Entrez Id:
7547
Gene Symbol:
ZIC3
ZIC3
HETEROTAXY, VISCERAL, 1, X-LINKED
0.700
GeneticVariation
UNIPROT
Elucidation of penetrance variability of a ZIC3 mutation in a family with complex heart defects and functional analysis of ZIC3 mutations in the first zinc finger domain.
17295247
2007
rs104894963
×
Entrez Id:
7547
Gene Symbol:
ZIC3
ZIC3
HETEROTAXY, VISCERAL, 1, X-LINKED
0.700
GeneticVariation
UNIPROT
Identification and functional analysis of ZIC3 mutations in heterotaxy and related congenital heart defects.
14681828
2004
rs373628598
×
Entrez Id:
7547
Gene Symbol:
ZIC3
ZIC3
HETEROTAXY, VISCERAL, 1, X-LINKED
0.700
GeneticVariation
UNIPROT
Identification and functional analysis of ZIC3 mutations in heterotaxy and related congenital heart defects.
14681828
2004
rs104894963
×
Entrez Id:
7547
Gene Symbol:
ZIC3
ZIC3
HETEROTAXY, VISCERAL, 1, X-LINKED
0.700
GeneticVariation
UNIPROT
X-linked situs abnormalities result from mutations in ZIC3.
9354794
1997
rs147232392
×
Entrez Id:
7547
Gene Symbol:
ZIC3
ZIC3
VACTERL Association With Hydrocephalus
T
0.700
CausalMutation
CLINVAR
[Characteristics of the formation of conditioned responses in the isolated LPa3 neuron of the edible snail].
2629409
1990
rs104894960
×
Entrez Id:
7547
Gene Symbol:
ZIC3
ZIC3
HETEROTAXY, VISCERAL, 1, X-LINKED
T
0.700
CausalMutation
CLINVAR
rs1203069392
×
Entrez Id:
7547
Gene Symbol:
ZIC3
ZIC3
HETEROTAXY, VISCERAL, 1, X-LINKED
A
0.700
CausalMutation
CLINVAR
rs122462166
×
Entrez Id:
7547
Gene Symbol:
ZIC3
ZIC3
HETEROTAXY, VISCERAL, 1, X-LINKED
A
0.700
CausalMutation
CLINVAR
rs122463167
×
Entrez Id:
7547
Gene Symbol:
ZIC3
ZIC3
HETEROTAXY, VISCERAL, 1, X-LINKED
A
0.700
CausalMutation
CLINVAR
rs1556029841
×
Entrez Id:
7547
Gene Symbol:
ZIC3
ZIC3
HETEROTAXY, VISCERAL, 1, X-LINKED
C
0.700
CausalMutation
CLINVAR
rs1569345504
×
Entrez Id:
7547
Gene Symbol:
ZIC3
ZIC3
HETEROTAXY, VISCERAL, 1, X-LINKED
A
0.700
CausalMutation
CLINVAR
rs1569345723
×
Entrez Id:
7547
Gene Symbol:
ZIC3
ZIC3
HETEROTAXY, VISCERAL, 1, X-LINKED
CG
0.700
CausalMutation
CLINVAR
rs1569345742
×
Entrez Id:
7547
Gene Symbol:
ZIC3
ZIC3
HETEROTAXY, VISCERAL, 1, X-LINKED
A
0.700
CausalMutation
CLINVAR
rs387906498
×
Entrez Id:
7547
Gene Symbol:
ZIC3
ZIC3
CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 1, X-LINKED
T
0.700
CausalMutation
CLINVAR
rs398122850
×
Entrez Id:
7547
Gene Symbol:
ZIC3
ZIC3
VACTERL Association With Hydrocephalus
TGCCGCC
0.700
CausalMutation
CLINVAR
rs886041111
×
Entrez Id:
7547
Gene Symbol:
ZIC3
ZIC3
HETEROTAXY, VISCERAL, 1, X-LINKED
C
0.700
GeneticVariation
CLINVAR