rs121909190
×
Entrez Id:
7291
Gene Symbol:
TWIST1
TWIST1
Craniosynostosis, Type 1
0.800
GeneticVariation
UNIPROT
Isolated sagittal and coronal craniosynostosis associated with TWIST box mutations.
17343269
2007
rs121909191
×
Entrez Id:
7291
Gene Symbol:
TWIST1
TWIST1
Craniosynostosis, Type 1
0.800
GeneticVariation
UNIPROT
Isolated sagittal and coronal craniosynostosis associated with TWIST box mutations.
17343269
2007
rs121909190
×
Entrez Id:
7291
Gene Symbol:
TWIST1
TWIST1
Craniosynostosis, Type 1
T
0.800
CausalMutation
CLINVAR
rs121909191
×
Entrez Id:
7291
Gene Symbol:
TWIST1
TWIST1
Craniosynostosis, Type 1
A
0.800
CausalMutation
CLINVAR
rs1554441995
×
Entrez Id:
7291
Gene Symbol:
TWIST1
TWIST1
Craniosynostosis, Type 1
G
0.700
GeneticVariation
CLINVAR
Expanding the mutation spectrum in 182 Spanish probands with craniosynostosis: identification and characterization of novel TCF12 variants.
25271085
2015
rs121909188
×
Entrez Id:
7291
Gene Symbol:
TWIST1
TWIST1
Craniosynostosis, Type 1
A
0.700
CausalMutation
CLINVAR
Genotype and clinical care correlations in craniosynostosis: findings from a cohort of 630 Australian and New Zealand patients.
24127277
2013
rs1554441993
×
Entrez Id:
7291
Gene Symbol:
TWIST1
TWIST1
Craniosynostosis, Type 1
TG
0.700
GeneticVariation
CLINVAR
Genotype and clinical care correlations in craniosynostosis: findings from a cohort of 630 Australian and New Zealand patients.
24127277
2013
rs1554441995
×
Entrez Id:
7291
Gene Symbol:
TWIST1
TWIST1
Craniosynostosis, Type 1
G
0.700
GeneticVariation
CLINVAR
Genotype and clinical care correlations in craniosynostosis: findings from a cohort of 630 Australian and New Zealand patients.
24127277
2013
rs1554442082
×
Entrez Id:
7291
Gene Symbol:
TWIST1
TWIST1
Craniosynostosis, Type 1
C
0.700
CausalMutation
CLINVAR
Genotype and clinical care correlations in craniosynostosis: findings from a cohort of 630 Australian and New Zealand patients.
24127277
2013
rs1554442019
×
Entrez Id:
7291
Gene Symbol:
TWIST1
TWIST1
Craniosynostosis, Type 1
C
0.700
GeneticVariation
CLINVAR
LOVD v.2.0: the next generation in gene variant databases.
21520333
2011
rs121909188
×
Entrez Id:
7291
Gene Symbol:
TWIST1
TWIST1
Craniosynostosis, Type 1
A
0.700
CausalMutation
CLINVAR
Prevalence and complications of single-gene and chromosomal disorders in craniosynostosis.
20643727
2010
rs1554441991
×
Entrez Id:
7291
Gene Symbol:
TWIST1
TWIST1
Craniosynostosis, Type 1
GGGCAGCGTGGGGATGATCTTC
0.700
CausalMutation
CLINVAR
Scalp fibroblasts have a shared expression profile in monogenic craniosynostosis.
19755431
2010
rs1554441991
×
Entrez Id:
7291
Gene Symbol:
TWIST1
TWIST1
Craniosynostosis, Type 1
GGGCAGCGTGGGGATGATCTTC
0.700
CausalMutation
CLINVAR
Prevalence and complications of single-gene and chromosomal disorders in craniosynostosis.
20643727
2010
rs1554441995
×
Entrez Id:
7291
Gene Symbol:
TWIST1
TWIST1
Craniosynostosis, Type 1
G
0.700
GeneticVariation
CLINVAR
Saethre-Chotzen syndrome, Pro136His TWIST mutation, hearing loss, and external and middle ear structural anomalies: report on a Brazilian family.
20184424
2010
rs121909188
×
Entrez Id:
7291
Gene Symbol:
TWIST1
TWIST1
Craniosynostosis, Type 1
A
0.700
CausalMutation
CLINVAR
Breast cancer risk is not increased in individuals with TWIST1 mutation confirmed Saethre-Chotzen syndrome: an Australian multicenter study.
19373776
2009
rs1554441995
×
Entrez Id:
7291
Gene Symbol:
TWIST1
TWIST1
Craniosynostosis, Type 1
G
0.700
GeneticVariation
CLINVAR
Breast cancer risk is not increased in individuals with TWIST1 mutation confirmed Saethre-Chotzen syndrome: an Australian multicenter study.
19373776
2009
rs1554441995
×
Entrez Id:
7291
Gene Symbol:
TWIST1
TWIST1
Craniosynostosis, Type 1
G
0.700
GeneticVariation
CLINVAR
Reoperation for intracranial hypertension in TWIST1-confirmed Saethre-Chotzen syndrome: a 15-year review.
19483581
2009
rs1554442019
×
Entrez Id:
7291
Gene Symbol:
TWIST1
TWIST1
Craniosynostosis, Type 1
C
0.700
GeneticVariation
CLINVAR
Integrated strategy for fast and automated molecular characterization of genes involved in craniosynostosis.
17693524
2007
rs1554441991
×
Entrez Id:
7291
Gene Symbol:
TWIST1
TWIST1
Craniosynostosis, Type 1
GGGCAGCGTGGGGATGATCTTC
0.700
CausalMutation
CLINVAR
Saethre-Chotzen syndrome caused by TWIST 1 gene mutations: functional differentiation from Muenke coronal synostosis syndrome.
16251895
2006
rs1554441995
×
Entrez Id:
7291
Gene Symbol:
TWIST1
TWIST1
Craniosynostosis, Type 1
G
0.700
GeneticVariation
CLINVAR
Saethre-Chotzen syndrome caused by TWIST 1 gene mutations: functional differentiation from Muenke coronal synostosis syndrome.
16251895
2006
rs1554441995
×
Entrez Id:
7291
Gene Symbol:
TWIST1
TWIST1
Craniosynostosis, Type 1
G
0.700
GeneticVariation
CLINVAR
Clinical and genetic analysis of patients with Saethre-Chotzen syndrome.
15923834
2005
rs1554442019
×
Entrez Id:
7291
Gene Symbol:
TWIST1
TWIST1
Craniosynostosis, Type 1
C
0.700
GeneticVariation
CLINVAR
Clinical and genetic analysis of patients with Saethre-Chotzen syndrome.
15923834
2005
rs1554441991
×
Entrez Id:
7291
Gene Symbol:
TWIST1
TWIST1
Craniosynostosis, Type 1
GGGCAGCGTGGGGATGATCTTC
0.700
CausalMutation
CLINVAR
Increased risk for developmental delay in Saethre-Chotzen syndrome is associated with TWIST deletions: an improved strategy for TWIST mutation screening.
14513358
2003
rs1554442082
×
Entrez Id:
7291
Gene Symbol:
TWIST1
TWIST1
Craniosynostosis, Type 1
C
0.700
CausalMutation
CLINVAR
Increased risk for developmental delay in Saethre-Chotzen syndrome is associated with TWIST deletions: an improved strategy for TWIST mutation screening.
14513358
2003
rs1554441991
×
Entrez Id:
7291
Gene Symbol:
TWIST1
TWIST1
Craniosynostosis, Type 1
GGGCAGCGTGGGGATGATCTTC
0.700
CausalMutation
CLINVAR
A Twist in fate: evolutionary comparison of Twist structure and function.
11992718
2002