Variant: rs121434226 

    present in Gene: IRF6
    present in Chromosome: 1
    Position on Chromosome: 209796477
    Alleles of this Variant: G/A

rs121434226 in IRF6 gene and OROFACIAL CLEFT 6, SUSCEPTIBILITY TO PMID 19036739 2009 Missense mutations that cause Van der Woude syndrome and popliteal pterygium syndrome affect the DNA-binding and transcriptional activation functions of IRF6.

PMID 25548624 2014 Skinfold over toenail is pathognomonic for the popliteal pterygium syndrome in a Congolese family with large intrafamilial variability.

PMID 18617879 2008 A familial case of popliteal pterygium syndrome.

PMID 22488974 2012 EEC syndrome-like phenotype in a patient with an IRF6 mutation.

rs121434226 in IRF6 gene and Popliteal pterygium syndrome PMID 20803643 2010 Two missense mutations of the IRF6 gene in two Japanese families with popliteal pterygium syndrome.

PMID 22488974 2012 EEC syndrome-like phenotype in a patient with an IRF6 mutation.

PMID 14640121 2003 Gene symbol IRF6. Disease: Van der Woude syndrome and popliteal pterygium.

PMID 25548624 2014 Skinfold over toenail is pathognomonic for the popliteal pterygium syndrome in a Congolese family with large intrafamilial variability.

PMID 12219090 2002 Mutations in IRF6 cause Van der Woude and popliteal pterygium syndromes.

PMID 18617879 2008 A familial case of popliteal pterygium syndrome.

PMID 19036739 2009 Missense mutations that cause Van der Woude syndrome and popliteal pterygium syndrome affect the DNA-binding and transcriptional activation functions of IRF6.

rs121434226 in IRF6 gene and VAN DER WOUDE SYNDROME 1 PMID 18617879 2008 A familial case of popliteal pterygium syndrome.

PMID 25548624 2014 Skinfold over toenail is pathognomonic for the popliteal pterygium syndrome in a Congolese family with large intrafamilial variability.

PMID 19036739 2009 Missense mutations that cause Van der Woude syndrome and popliteal pterygium syndrome affect the DNA-binding and transcriptional activation functions of IRF6.

PMID 22488974 2012 EEC syndrome-like phenotype in a patient with an IRF6 mutation.