Database of Pathogenic Variants
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Gene Detail
Gene Symbol
GJB2
Gene:2706
HGNC:4284
Gene Name
gap junction protein beta 2
Chromosome
13
Cytogenetic Band
q12.11
RefSeq Accession
NM_004004
Associated Diseases
Deafness, autosomal recessive, 1A
Associated Variants
NM_004004:c.427C>T
NM_004004.6:c.427C>T
NM_004004:c.257C>G
NM_004004:c.212T>C
NM_004004:c.146C>T
NM_004004:c.109G>A
NM_004004.5:c.512_513insAACG
NM_004004:c.299_300delAT
NM_004004.5:c.299_300delAT
NM_004004.6:c.299_300delAT
NM_004004.5:c.235delC
NM_004004.6:c.235delC
NM_004004.5:c.176_191del16
NM_004004.5:c.35_35dupG
NM_004004.5:c.19C>T
NM_004004.5:c.35delG