rs104894416
×
Entrez Id:
10804
Gene Symbol:
GJB6
GJB6
Hidrotic Ectodermal Dysplasia
T
0.830
CausalMutation
CLINVAR
rs104894415
×
Entrez Id:
10804
Gene Symbol:
GJB6
GJB6
Deafness, Autosomal Recessive 1b
T
0.700
CausalMutation
CLINVAR
rs104894415
×
Entrez Id:
10804
Gene Symbol:
GJB6
GJB6
Progressive hearing loss stapes fixation
T
0.700
CausalMutation
CLINVAR
rs1566538321
×
Entrez Id:
10804
Gene Symbol:
GJB6
GJB6
Nonsyndromic Deafness
A
0.700
GeneticVariation
CLINVAR
rs772862268
×
Entrez Id:
10804
Gene Symbol:
GJB6
GJB6
Nonsyndromic Deafness
A
0.700
GeneticVariation
CLINVAR
rs104894414
×
Entrez Id:
10804
Gene Symbol:
GJB6
GJB6
Deafness, Autosomal Dominant 3B
0.800
GeneticVariation
UNIPROT
Mutations in GJB6 cause nonsyndromic autosomal dominant deafness at DFNA3 locus.
10471490
1999
rs104894414
×
Entrez Id:
10804
Gene Symbol:
GJB6
GJB6
Deafness, Autosomal Dominant 3B
A
0.800
CausalMutation
CLINVAR
Mutations in GJB6 cause nonsyndromic autosomal dominant deafness at DFNA3 locus.
10471490
1999
rs104894415
×
Entrez Id:
10804
Gene Symbol:
GJB6
GJB6
Hidrotic Ectodermal Dysplasia
0.830
GeneticVariation
UNIPROT
Mutations in GJB6 cause hidrotic ectodermal dysplasia.
11017065
2000
rs104894415
×
Entrez Id:
10804
Gene Symbol:
GJB6
GJB6
Hidrotic Ectodermal Dysplasia
T
0.830
CausalMutation
CLINVAR
Mutations in GJB6 cause hidrotic ectodermal dysplasia.
11017065
2000
rs104894416
×
Entrez Id:
10804
Gene Symbol:
GJB6
GJB6
Hidrotic Ectodermal Dysplasia
0.830
GeneticVariation
UNIPROT
Mutations in GJB6 cause hidrotic ectodermal dysplasia.
11017065
2000
rs28937872
×
Entrez Id:
10804
Gene Symbol:
GJB6
GJB6
Hidrotic Ectodermal Dysplasia
A
0.740
CausalMutation
CLINVAR
Mutations in GJB6 cause hidrotic ectodermal dysplasia.
11017065
2000
rs104894415
×
Entrez Id:
10804
Gene Symbol:
GJB6
GJB6
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
T
0.700
CausalMutation
CLINVAR
Mutations in GJB6 cause hidrotic ectodermal dysplasia.
11017065
2000
rs104894415
×
Entrez Id:
10804
Gene Symbol:
GJB6
GJB6
Deafness, Autosomal Dominant 3B
T
0.700
CausalMutation
CLINVAR
Mutations in GJB6 cause hidrotic ectodermal dysplasia.
11017065
2000
rs28937872
×
Entrez Id:
10804
Gene Symbol:
GJB6
GJB6
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
A
0.700
CausalMutation
CLINVAR
Mutations in GJB6 cause hidrotic ectodermal dysplasia.
11017065
2000
rs28937872
×
Entrez Id:
10804
Gene Symbol:
GJB6
GJB6
Deafness, Autosomal Dominant 3B
A
0.700
CausalMutation
CLINVAR
Mutations in GJB6 cause hidrotic ectodermal dysplasia.
11017065
2000
rs189971962
×
Entrez Id:
10804
Gene Symbol:
GJB6
GJB6
hearing impairment
0.010
GeneticVariation
BEFREE
Mutations in the connexin26 gene were found in 30 patients (22%) with profound to severe hearing impairment whereas only one novel single nucleotide polymorphism (396G-->A ) in the connexin30 gene was detected.
11385713
2001
rs104894415
×
Entrez Id:
10804
Gene Symbol:
GJB6
GJB6
Hidrotic Ectodermal Dysplasia
T
0.830
CausalMutation
CLINVAR
Functional studies of human skin disease- and deafness-associated connexin 30 mutations.
12419304
2002
rs104894415
×
Entrez Id:
10804
Gene Symbol:
GJB6
GJB6
Hidrotic Ectodermal Dysplasia
0.830
GeneticVariation
UNIPROT
A novel connexin 30 mutation in Clouston syndrome.
11874494
2002
rs104894416
×
Entrez Id:
10804
Gene Symbol:
GJB6
GJB6
Hidrotic Ectodermal Dysplasia
0.830
GeneticVariation
UNIPROT
Here, we report a novel mutation V37E within the first transmembrane domain of connexin 30 in a spontaneous case of Clouston syndrome .
11874494
2002
rs104894416
×
Entrez Id:
10804
Gene Symbol:
GJB6
GJB6
Hidrotic Ectodermal Dysplasia
0.830
GeneticVariation
BEFREE
Here, we report a novel mutation V37E within the first transmembrane domain of connexin 30 in a spontaneous case of Clouston syndrome .
11874494
2002
rs28937872
×
Entrez Id:
10804
Gene Symbol:
GJB6
GJB6
Hidrotic Ectodermal Dysplasia
A
0.740
CausalMutation
CLINVAR
Functional studies of human skin disease- and deafness-associated connexin 30 mutations.
12419304
2002
rs104894415
×
Entrez Id:
10804
Gene Symbol:
GJB6
GJB6
Deafness, Autosomal Dominant 3B
T
0.700
CausalMutation
CLINVAR
Functional studies of human skin disease- and deafness-associated connexin 30 mutations.
12419304
2002
rs104894415
×
Entrez Id:
10804
Gene Symbol:
GJB6
GJB6
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
T
0.700
CausalMutation
CLINVAR
Functional studies of human skin disease- and deafness-associated connexin 30 mutations.
12419304
2002
rs28937872
×
Entrez Id:
10804
Gene Symbol:
GJB6
GJB6
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
A
0.700
CausalMutation
CLINVAR
Functional studies of human skin disease- and deafness-associated connexin 30 mutations.
12419304
2002
rs28937872
×
Entrez Id:
10804
Gene Symbol:
GJB6
GJB6
Deafness, Autosomal Dominant 3B
A
0.700
CausalMutation
CLINVAR
Functional studies of human skin disease- and deafness-associated connexin 30 mutations.
12419304
2002