Variant: rs151344530 

    present in Gene: TFAP2A;TFAP2A-AS2
    present in Chromosome: 6
    Position on Chromosome: 10404511
    Alleles of this Variant: C/G;T

rs151344530 in TFAP2A;TFAP2A-AS2 gene and Dysmorphic features PMID 23578821 2013 Analysis of TFAP2A mutations in Branchio-Oculo-Facial Syndrome indicates functional complexity within the AP-2α DNA-binding domain.

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 21204207 2011 Genotype-phenotype analysis of 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 20358615 2010 Additional clinical and molecular analyses of TFAP2A in patients with the branchio-oculo-facial syndrome.

rs151344530 in TFAP2A;TFAP2A-AS2 gene and Multiple congenital anomalies 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.

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

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