Variant: rs121909574 

    present in Gene: TFAP2A-AS2;TFAP2A
    present in Chromosome: 6
    Position on Chromosome: 10404509
    Alleles of this Variant: T/A;C;G

rs121909574 in TFAP2A-AS2;TFAP2A gene and Abnormality of the middle ear ossicles PMID 25590586 2015 A clinical and molecular analysis of branchio-oculo-facial syndrome patients in Russia revealed new mutations in TFAP2A.

rs121909574 in TFAP2A-AS2;TFAP2A gene and Branchial anomaly PMID 25590586 2015 A clinical and molecular analysis of branchio-oculo-facial syndrome patients in Russia revealed new mutations in TFAP2A.

rs121909574 in TFAP2A-AS2;TFAP2A gene and Branchio-Oculo-Facial Syndrome PMID 18423521 2008 TFAP2A mutations result in branchio-oculo-facial syndrome.

PMID 25590586 2015 A clinical and molecular analysis of branchio-oculo-facial syndrome patients in Russia revealed new mutations in TFAP2A.

rs121909574 in TFAP2A-AS2;TFAP2A gene and Cleft palate, isolated PMID 25590586 2015 A clinical and molecular analysis of branchio-oculo-facial syndrome patients in Russia revealed new mutations in TFAP2A.

rs121909574 in TFAP2A-AS2;TFAP2A gene and Cleft upper lip PMID 25590586 2015 A clinical and molecular analysis of branchio-oculo-facial syndrome patients in Russia revealed new mutations in TFAP2A.

rs121909574 in TFAP2A-AS2;TFAP2A gene and Coloboma of the Retina PMID 25590586 2015 A clinical and molecular analysis of branchio-oculo-facial syndrome patients in Russia revealed new mutations in TFAP2A.

rs121909574 in TFAP2A-AS2;TFAP2A gene and Conductive hearing loss, bilateral PMID 25590586 2015 A clinical and molecular analysis of branchio-oculo-facial syndrome patients in Russia revealed new mutations in TFAP2A.

rs121909574 in TFAP2A-AS2;TFAP2A gene and Dilatated internal auditory canal PMID 25590586 2015 A clinical and molecular analysis of branchio-oculo-facial syndrome patients in Russia revealed new mutations in TFAP2A.

rs121909574 in TFAP2A-AS2;TFAP2A gene and Dysmorphic features PMID 25590586 2015 A clinical and molecular analysis of branchio-oculo-facial syndrome patients in Russia revealed new mutations in TFAP2A.

PMID 7747785 1995 Further delineation of the branchio-oculo-facial syndrome.

PMID 23578821 2013 Analysis of TFAP2A mutations in Branchio-Oculo-Facial Syndrome indicates functional complexity within the AP-2α DNA-binding domain.

PMID 21204207 2011 Genotype-phenotype analysis of the branchio-oculo-facial syndrome.

PMID 20358615 2010 Additional clinical and molecular analyses of TFAP2A in patients with the branchio-oculo-facial syndrome.

PMID 19764023 2009 Confirmation of TFAP2A gene involvement in branchio-oculo-facial syndrome (BOFS) and report of temporal bone anomalies.

rs121909574 in TFAP2A-AS2;TFAP2A gene and Long narrow head PMID 25590586 2015 A clinical and molecular analysis of branchio-oculo-facial syndrome patients in Russia revealed new mutations in TFAP2A.

rs121909574 in TFAP2A-AS2;TFAP2A gene and Multiple congenital anomalies PMID 7747785 1995 Further delineation of the branchio-oculo-facial syndrome.

PMID 20358615 2010 Additional clinical and molecular analyses of TFAP2A in patients with the branchio-oculo-facial syndrome.

PMID 19764023 2009 Confirmation of TFAP2A gene involvement in branchio-oculo-facial syndrome (BOFS) and report of temporal bone anomalies.

PMID 25590586 2015 A clinical and molecular analysis of branchio-oculo-facial syndrome patients in Russia revealed new mutations in TFAP2A.

PMID 21204207 2011 Genotype-phenotype analysis of the branchio-oculo-facial syndrome.

PMID 23578821 2013 Analysis of TFAP2A mutations in Branchio-Oculo-Facial Syndrome indicates functional complexity within the AP-2α DNA-binding domain.

rs121909574 in TFAP2A-AS2;TFAP2A gene and Stenosis of nasolacrimal duct PMID 25590586 2015 A clinical and molecular analysis of branchio-oculo-facial syndrome patients in Russia revealed new mutations in TFAP2A.

rs121909574 in TFAP2A-AS2;TFAP2A gene and Strabismus PMID 25590586 2015 A clinical and molecular analysis of branchio-oculo-facial syndrome patients in Russia revealed new mutations in TFAP2A.