chr13:20763587:C>T Detail (hg19) (GJB2)

Information

Genome

Assembly Position
hg19 chr13:20,763,587-20,763,587
hg38 chr13:20,189,448-20,189,448 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_004004.5:c.134G>A NP_003995.2:p.Gly45Glu
Ensemble ENST00000382844.2:c.134G>A ENST00000382844.2:p.Gly45Glu
ENST00000382848.5:c.134G>A ENST00000382848.5:p.Gly45Glu
Summary

MGeND

Clinical significance Pathogenic
Variant entry 5
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:0.003
ToMMo:0.002
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:[No Data.]

Prediction

ClinVar

Clinical Significance Pathogenic Likely pathogenic
Review star
Show details
Links
Type Database ID Link
Gene MIM 121011 OMIM
HGNC 4284 HGNC
Ensembl ENSG00000165474 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv47910962 TogoVar
COSMIC
MONDO
Disease area statistics
MGeND
Clinical significance Last evaluated Condition Origin Submission ID Submitter Institute Citation Comment Image
Pathogenic other germline MGS000001
(TMGS000137) 		Kenjiro Kosaki Keio University
Pathogenic other germline MGS000001
(TMGS000154) 		Kenjiro Kosaki Keio University
Pathogenic deafness, autosomal recessive unknown MGS000001
(TMGS000162) 		Kenjiro Kosaki Keio University
Pathogenic bilateral sensorineural hearing loss unknown MGS000001
(TMGS000162) 		Kenjiro Kosaki Keio University
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Pathogenic 2011-12-01 no assertion criteria provided Autosomal dominant keratitis-ichthyosis-hearing loss syndrome germline Detail
Pathogenic Likely pathogenic 2019-08-21 criteria provided, multiple submitters, no conflicts Autosomal recessive nonsyndromic hearing loss 1A germline unknown Detail
Pathogenic 2017-05-09 criteria provided, single submitter Autosomal recessive nonsyndromic hearing loss 1A germline Detail
Pathogenic 2023-11-28 criteria provided, multiple submitters, no conflicts not provided germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.440 DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder) NA CLINVAR Detail
<0.001 Multisystem disorder Dominantly inherited GJB2 mutations, including the p.Gly45Glu found in our case,... BeFree 25692760 Detail
0.012 Keratitis-Ichthyosis-Deafness Syndrome Substitution of glycine at the position 45 of Cx26 to glutamic acid (p.G45E muta... BeFree 23756814 Detail
0.125 keratitis A familial case of Keratitis-Ichthyosis-Deafness (KID) syndrome with the GJB2 mu... BeFree 18024254 Detail
0.012 Keratitis-Ichthyosis-Deafness Syndrome A familial case of Keratitis-Ichthyosis-Deafness (KID) syndrome with the GJB2 mu... BeFree 18024254 Detail
0.012 Keratitis-Ichthyosis-Deafness Syndrome Differentially altered Ca2+ regulation and Ca2+ permeability in Cx26 hemichannel... BeFree 20584891 Detail
0.345 Sensorineural Hearing Loss (disorder) The G45E mutation was not reported previously in Caucasian patients but was the ... BeFree 15633193 Detail
0.121 Porokeratotic eccrine ostial and dermal duct nevus A Somatic p.G45E GJB2 Mutation Causing Porokeratotic Eccrine Ostial and Dermal D... BeFree 25692760 Detail
0.012 Keratitis-Ichthyosis-Deafness Syndrome Dominantly inherited GJB2 mutations, including the p.Gly45Glu found in our case,... BeFree 25692760 Detail
0.328 Senter syndrome Substitution of glycine at the position 45 of Cx26 to glutamic acid (p.G45E muta... BeFree 23756814 Detail
0.125 keratitis Substitution of glycine at the position 45 of Cx26 to glutamic acid (p.G45E muta... BeFree 23756814 Detail
0.328 Senter syndrome A familial case of Keratitis-Ichthyosis-Deafness (KID) syndrome with the GJB2 mu... BeFree 18024254 Detail
0.012 Keratitis-Ichthyosis-Deafness Syndrome The Cx26-G45E mutation displays increased hemichannel activity in a mouse model ... BeFree 22031297 Detail
0.012 Keratitis-Ichthyosis-Deafness Syndrome Here, we used the Xenopus oocyte expression system to examine the functional cha... BeFree 17428836 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_004004.6(GJB2):c.134G>A (p.Gly45Glu) AND Autosomal dominant keratitis-ichthyosis-hearing loss syn... ClinVar Detail
NM_004004.6(GJB2):c.134G>A (p.Gly45Glu) AND Autosomal recessive nonsyndromic hearing loss 1A ClinVar Detail
NM_004004.5(GJB2):c.[134G>A;408C>A] AND Autosomal recessive nonsyndromic hearing loss 1A ClinVar Detail
NM_004004.6(GJB2):c.134G>A (p.Gly45Glu) AND not provided ClinVar Detail
NA DisGeNET Detail
Dominantly inherited GJB2 mutations, including the p.Gly45Glu found in our case, have been shown to ... DisGeNET Detail
Substitution of glycine at the position 45 of Cx26 to glutamic acid (p.G45E mutation) causes the Ker... DisGeNET Detail
A familial case of Keratitis-Ichthyosis-Deafness (KID) syndrome with the GJB2 mutation G45E. DisGeNET Detail
A familial case of Keratitis-Ichthyosis-Deafness (KID) syndrome with the GJB2 mutation G45E. DisGeNET Detail
Differentially altered Ca2+ regulation and Ca2+ permeability in Cx26 hemichannels formed by the A40V... DisGeNET Detail
The G45E mutation was not reported previously in Caucasian patients but was the third most common GJ... DisGeNET Detail
A Somatic p.G45E GJB2 Mutation Causing Porokeratotic Eccrine Ostial and Dermal Duct Nevus. DisGeNET Detail
Dominantly inherited GJB2 mutations, including the p.Gly45Glu found in our case, have been shown to ... DisGeNET Detail
Substitution of glycine at the position 45 of Cx26 to glutamic acid (p.G45E mutation) causes the Ker... DisGeNET Detail
Substitution of glycine at the position 45 of Cx26 to glutamic acid (p.G45E mutation) causes the Ker... DisGeNET Detail
A familial case of Keratitis-Ichthyosis-Deafness (KID) syndrome with the GJB2 mutation G45E. DisGeNET Detail
The Cx26-G45E mutation displays increased hemichannel activity in a mouse model of the lethal form o... DisGeNET Detail
Here, we used the Xenopus oocyte expression system to examine the functional characteristics of a Cx... DisGeNET Detail

Overlapped Transcript Coordinates

Gene Transcript ID Exon Number Chromosome Start Stop Type Amino Mutation Transcript Position Links

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs72561723 dbSNP
Genome
hg19
Position
chr13:20,763,587-20,763,587
Variant Type
snv
Reference Allele
C
Alternative Allele
T
Filtering Status (HGVD)
PASS
# of samples (HGVD)
1210
Mean of sample read depth (HGVD)
163.86
Standard deviation of sample read depth (HGVD)
74.64
Number of reference allele (HGVD)
2412
Number of alternative allele (HGVD)
8
Allele Frequency (HGVD)
0.003305785123966942
Gene Symbol (HGVD)
GJB2
ToMMo VCF FILTER column value (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
PASS
Total VCF ID column value (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
rs72561723
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.0018
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
30
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
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