Home Page

References

OMIM

Gene

GeneReviews

HGMD

HGNC

GENATLAS PHENOTYPE

last update : 22/07/2006

Symbol	DFNAC
Location	1p35.1-p34
Name	neurosensory deafness, witn abnormal connexin 31
Corresponding gene	GJB3
Other symbol(s)	DFNA2
Main clinical features	postlingual in a Chinese (C) pedigree, non syndromic deafness
Genetic determination	autosomal dominant
	autosomal recessive
Function/system disorder	ear
Type	disease

Gene product

Name	gap junction protein beta 3, mutation in the extracellular loop 2