rs74315315
|
GJB3;SMIM12;LOC105378642
|
ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA 1
|
C |
0.800 |
CausalMutation |
CLINVAR |
|
|
|
rs74315316
|
GJB3;SMIM12;LOC105378642
|
ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA 1
|
A |
0.800 |
CausalMutation |
CLINVAR |
|
|
|
rs74315317
|
GJB3;SMIM12;LOC105378642
|
ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA 1
|
A |
0.800 |
CausalMutation |
CLINVAR |
|
|
|
rs74315318
|
GJB3;SMIM12;LOC105378642
|
Deafness, Autosomal Dominant 2B
|
A |
0.800 |
CausalMutation |
CLINVAR |
|
|
|
rs74315321
|
GJB3;SMIM12;LOC105378642
|
ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA 1
|
C |
0.800 |
CausalMutation |
CLINVAR |
|
|
|
rs121908851
|
GJB3;SMIM12;LOC105378642
|
DEAFNESS, DIGENIC, GJB2/GJB3 (disorder)
|
G |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs144964568
|
GJB3;SMIM12;LOC105378642
|
Nonsyndromic Deafness
|
T |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
rs1557659237
|
GJB3;SMIM12;LOC105378642
|
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
|
A |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs1557659237
|
GJB3;SMIM12;LOC105378642
|
hearing impairment
|
A |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs28937583
|
GJB3;SMIM12;LOC105378642
|
ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA 1
|
C |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs74315320
|
GJB3;SMIM12;LOC105378642
|
DEAFNESS, AUTOSOMAL RECESSIVE (disorder)
|
G |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs770247378
|
GJB3;SMIM12;LOC105378642
|
DEAFNESS, AUTOSOMAL RECESSIVE (disorder)
|
C |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs74315315
|
GJB3;SMIM12;LOC105378642
|
Erythrokeratodermia variabilis
|
|
0.010 |
GeneticVariation |
BEFREE |
Additionally, the expression of five EKV-associated dominant mutants (G12R, G12D, R42P, C86S and F137L) caused cell death in HeLa cells.
|
16077902 |
2005 |
rs2359644
|
GJB3;SMIM12;LOC105378642
|
Tonometry
|
C |
0.700 |
GeneticVariation |
GWASCAT |
Genome-wide analysis identified 17 new loci influencing intraocular pressure in Chinese population.
|
30591961 |
2019 |
rs74315321
|
GJB3;SMIM12;LOC105378642
|
Erythrokeratoderma
|
|
0.010 |
GeneticVariation |
BEFREE |
Identification of a novel mutation R42P in the gap junction protein beta-3 associated with autosomal dominant erythrokeratoderma variabilis.
|
10594760 |
1999 |
rs74315315
|
GJB3;SMIM12;LOC105378642
|
ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA 1
|
|
0.800 |
GeneticVariation |
UNIPROT |
Identification of a novel mutation R42P in the gap junction protein beta-3 associated with autosomal dominant erythrokeratoderma variabilis.
|
10594760 |
1999 |
rs74315316
|
GJB3;SMIM12;LOC105378642
|
ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA 1
|
|
0.800 |
GeneticVariation |
UNIPROT |
Identification of a novel mutation R42P in the gap junction protein beta-3 associated with autosomal dominant erythrokeratoderma variabilis.
|
10594760 |
1999 |
rs74315317
|
GJB3;SMIM12;LOC105378642
|
ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA 1
|
|
0.800 |
GeneticVariation |
UNIPROT |
Identification of a novel mutation R42P in the gap junction protein beta-3 associated with autosomal dominant erythrokeratoderma variabilis.
|
10594760 |
1999 |
rs74315321
|
GJB3;SMIM12;LOC105378642
|
ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA 1
|
|
0.800 |
GeneticVariation |
UNIPROT |
Identification of a novel mutation R42P in the gap junction protein beta-3 associated with autosomal dominant erythrokeratoderma variabilis.
|
10594760 |
1999 |
rs74315321
|
GJB3;SMIM12;LOC105378642
|
Erythrokeratodermia variabilis
|
|
0.010 |
GeneticVariation |
BEFREE |
Immunostaining of a biopsy taken from an EKV patient harbouring the R42P mutation revealed sparse epidermal staining of Cx31, and, when present, it had a perinuclear localization.
|
12165562 |
2002 |
rs749431664
|
GJB3;SMIM12;LOC105378642
|
Nonsyndromic Deafness
|
|
0.010 |
GeneticVariation |
BEFREE |
Mechanism of a novel missense mutation, p.V174M, of the human connexin31 (GJB3) in causing nonsyndromic hearing loss.
|
24913888 |
2014 |
rs74315319
|
GJB3;SMIM12;LOC105378642
|
Hearing Loss, High-Frequency
|
|
0.010 |
GeneticVariation |
BEFREE |
Mutations in GJB3 were originally shown to underlie an autosomal dominant form of non-syndromic deafness in Chinese patients and the c.538C>T (p.R180*) variants caused high-frequency hearing loss.
|
29106878 |
2017 |
rs74315318
|
GJB3;SMIM12;LOC105378642
|
Deafness, Autosomal Dominant 2B
|
|
0.800 |
GeneticVariation |
UNIPROT |
Mutations in the gene encoding gap junction protein beta-3 associated with autosomal dominant hearing impairment.
|
9843210 |
1998 |
rs74315320
|
GJB3;SMIM12;LOC105378642
|
Deafness, Autosomal Dominant 2B
|
|
0.700 |
GeneticVariation |
UNIPROT |
Mutations in the gene encoding gap junction protein beta-3 associated with autosomal dominant hearing impairment.
|
9843210 |
1998 |
rs74315315
|
GJB3;SMIM12;LOC105378642
|
ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA 1
|
|
0.800 |
GeneticVariation |
UNIPROT |
Mutations in the human connexin gene GJB3 cause erythrokeratodermia variabilis.
|
9843209 |
1998 |