GJB2, gap junction protein beta 2, 2706

N. diseases: 392; N. variants: 132
Disease: hearing impairment ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs104894402
rs104894402
Entrez Id: 2706
Gene Symbol: GJB2
GJB2
CUI: C1384666
Disease:
hearing impairment 		0.720 GeneticVariation BEFREE To dissect the pathomechanisms that result in diverse phenotypes of dominant GJB2 mutations, we studied the effect of three Cx26 mutants (DeltaE42, D66H and R75W) identified in individuals with PPK/HI, and another (W44C) present in individuals with non-syndromic HI on gap junctional intercellular communication. 11493646 2001
dbSNP: rs104894402
rs104894402
Entrez Id: 2706
Gene Symbol: GJB2
GJB2
CUI: C1384666
Disease:
hearing impairment 		0.720 GeneticVariation BEFREE Over 50 mutations have been identified in the GJB2 gene, of which some missense changes (M34T, W44C, G59A, D66H, and R75W) have a negative dominant action in hearing impairment, with partial to full penetrance. 10980526 2000
dbSNP: rs104894402
rs104894402
Entrez Id: 2706
Gene Symbol: GJB2
GJB2
CUI: C1384666
Disease:
hearing impairment 		C 0.720 GeneticVariation CLINVAR