POU4F3, POU class 4 homeobox 3, 5459

N. diseases: 23; N. variants: 8
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs367737951
rs367737951
Entrez Id: 5459
Gene Symbol: POU4F3
POU4F3
CUI: C1865366
Disease:
Deafness, Autosomal Dominant 15 		0.700 GeneticVariation UNIPROT Mutation in transcription factor POU4F3 associated with inherited progressive hearing loss in humans. 9506947 1998
dbSNP: rs1064792854
rs1064792854
Entrez Id: 5459
Gene Symbol: POU4F3
POU4F3
CUI: C1865366
Disease:
Deafness, Autosomal Dominant 15 		G 0.700 CausalMutation CLINVAR
dbSNP: rs1339291105
rs1339291105
Entrez Id: 5459
Gene Symbol: POU4F3
POU4F3
CUI: C1865366
Disease:
Deafness, Autosomal Dominant 15 		0.700 GeneticVariation UNIPROT
dbSNP: rs1561590396
rs1561590396
Entrez Id: 5459
Gene Symbol: POU4F3
POU4F3
CUI: C1384666
Disease:
hearing impairment 		T 0.700 CausalMutation CLINVAR
dbSNP: rs398123070
rs398123070
Entrez Id: 5459
Gene Symbol: POU4F3
POU4F3
CUI: C1865366
Disease:
Deafness, Autosomal Dominant 15 		A 0.700 CausalMutation CLINVAR
dbSNP: rs398124631
rs398124631
Entrez Id: 5459
Gene Symbol: POU4F3
POU4F3
CUI: C1865366
Disease:
Deafness, Autosomal Dominant 15 		C 0.700 CausalMutation CLINVAR
dbSNP: rs121909057
rs121909057
Entrez Id: 5459
Gene Symbol: POU4F3
POU4F3
CUI: C1384666
Disease:
hearing impairment 		0.020 GeneticVariation BEFREE A novel mutation (L223P) in POU4F3 segregated with hearing impairment in the present family. 19462854 2009
dbSNP: rs121909057
rs121909057
Entrez Id: 5459
Gene Symbol: POU4F3
POU4F3
CUI: C1384666
Disease:
hearing impairment 		0.020 GeneticVariation BEFREE Mutation analysis of the POU4F3 gene in 30 patients suffering from dominantly inherited hearing impairment revealed a second novel missense mutation (c.668T>C), resulting in the substitution of a proline for a leucine residue (p.L223P) within the POU-specific DNA-binding domain of the protein. 18228599 2008