TFAP2A, transcription factor AP-2 alpha, 7020

N. diseases: 250; N. variants: 20
Disease: Branchio-Oculo-Facial Syndrome ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121909574
rs121909574
Entrez Id: 7020;109729173
Gene Symbol: TFAP2A;TFAP2A-AS2
TFAP2A;TFAP2A-AS2
CUI: C0376524
Disease:
Branchio-Oculo-Facial Syndrome 		C 0.810 CausalMutation CLINVAR A clinical and molecular analysis of branchio-oculo-facial syndrome patients in Russia revealed new mutations in TFAP2A. 25590586 2015
dbSNP: rs121909574
rs121909574
Entrez Id: 7020;109729173
Gene Symbol: TFAP2A;TFAP2A-AS2
TFAP2A;TFAP2A-AS2
CUI: C0376524
Disease:
Branchio-Oculo-Facial Syndrome 		0.810 GeneticVariation BEFREE DNA analysis of the TFAP2A gene associated with BOFS using DNA sequencing detected a mutation [c.763A>G (p.Arg255Gly)] in two unrelated patients. 20358615 2010
dbSNP: rs121909574
rs121909574
Entrez Id: 7020;109729173
Gene Symbol: TFAP2A;TFAP2A-AS2
TFAP2A;TFAP2A-AS2
CUI: C0376524
Disease:
Branchio-Oculo-Facial Syndrome 		0.810 GeneticVariation UNIPROT TFAP2A mutations result in branchio-oculo-facial syndrome. 18423521 2008