present in Gene: TCF12
present in Chromosome: 15
Position on Chromosome: 57262146
Alleles of this Variant: T/G
rs36060670 in
TCF12 gene and
CRANIOSYNOSTOSIS 3
PMID 25271085 2015 Expanding the mutation spectrum in 182 Spanish probands with craniosynostosis: identification and characterization of novel TCF12 variants.
PMID 23354436 2013 Mutations in TCF12, encoding a basic helix-loop-helix partner of TWIST1, are a frequent cause of coronal craniosynostosis.