ClinVar Genomic variation as it relates to human health
NM_004004.5(GJB2):c.[79G>A;341A>G]
The aggregate germline classification for this variant, typically for a monogenic or Mendelian disorder as in the ACMG/AMP guidelines, or for response to a drug. This value is calculated by NCBI based on data from submitters. Read our rules for calculating the aggregate classification.
Stars represent the aggregate review status, or the level of review supporting the aggregate germline classification for this VCV record. This value is calculated by NCBI based on data from submitters. Read our rules for calculating the review status. The number of submissions which contribute to this review status is shown in parentheses.
No data submitted for somatic clinical impact
No data submitted for oncogenicity
Variant Details
NM_004004.5(GJB2):c.[79G>A;341A>G]
- Other names
- p.[Val27Ile|Glu114Gly]
- Functional consequence
- -
- Links
- ClinGen: CA354398
Genes
Gene | OMIM | ClinGen Gene Dosage Sensitivity Curation |
Variation Viewer
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Links to Variation Viewer, a genome browser to view variation data from NCBI databases. |
Related variants | ||
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HI score
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The haploinsufficiency score for the gene, curated by ClinGen’s Dosage Sensitivity Curation task team. |
TS score
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The triplosensitivity score for the gene, curated by ClinGen’s Dosage Sensitivity Curation task team. |
Within gene
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The number of variants in ClinVar that are contained within this gene, with a link to view the list of variants. |
All
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The number of variants in ClinVar for this gene, including smaller variants within the gene and larger CNVs that overlap or fully contain the gene. |
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GJB2 | Dosage sensitivity unlikely | No evidence available |
GRCh38 GRCh37 |
556 | 617 |
Conditions - Germline
Condition
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The condition for this variant-condition (RCV) record in ClinVar. |
Classification
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The aggregate germline classification for this variant-condition (RCV) record in ClinVar. The number of submissions that contribute to this aggregate classification is shown in parentheses. (# of submissions) |
Review status
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The aggregate review status for this variant-condition (RCV) record in ClinVar. This value is calculated by NCBI based on data from submitters. Read our rules for calculating the review status. |
Last evaluated
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The most recent date that a submitter evaluated this variant for the condition. |
Variation/condition record
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The RCV accession number, with most recent version number, for the variant-condition record, with a link to the RCV web page. |
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Benign/Likely benign (2) |
criteria provided, multiple submitters, no conflicts
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Apr 20, 2021 | RCV000154452.15 |
Submissions - Germline
Classification
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The submitted germline classification for each SCV record. (Last evaluated) |
Review status
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Stars represent the review status, or the level of review supporting the submitted (SCV) record. This value is calculated by NCBI based on data from the submitter. Read our rules for calculating the review status. This column also includes a link to the submitter’s assertion criteria if provided, and the collection method. (Assertion criteria) |
Condition
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The condition for the classification, provided by the submitter for this submitted (SCV) record. This column also includes the affected status and allele origin of individuals observed with this variant. |
Submitter
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The submitting organization for this submitted (SCV) record. This column also includes the SCV accession and version number, the date this SCV first appeared in ClinVar, and the date that this SCV was last updated in ClinVar. |
More information
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This column includes more information supporting the classification, including citations, the comment on classification, and detailed evidence provided as observations of the variant by the submitter. |
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Likely benign
(May 23, 2014)
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criteria provided, single submitter
Method: clinical testing
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not specified
Affected status: not provided
Allele origin:
germline
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Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine
Accession: SCV000204121.4
First in ClinVar: Jan 31, 2015 Last updated: May 29, 2016 |
Comment:
p.[Val27Ile;Glu114Gly] in Exon 2 of GJB2: The p.Val27Ile and p.Glu114Gly variant s in GJB2 have been detected as independent variants in control individuals and have … (more)
p.[Val27Ile;Glu114Gly] in Exon 2 of GJB2: The p.Val27Ile and p.Glu114Gly variant s in GJB2 have been detected as independent variants in control individuals and have been classified as common benign polymorphisms (Kelley 1998; Park 2000). Se veral reports associate the presence of these two variants in cis (on the same c hromosome) with hearing loss, particularly when combined with another clearly pa thogenic GJB2 variant (Putcha 2007, Rodriguez-Paris 2010, Kenna 2010). However, this combined allele has been identified in the homozygous state at a frequency of 4.2% (12/286) in Chinese and Japanese individuals by the 1000 Genomes Project (dbSNP IDs rs2274084 and rs2274083). In addition, the p.[Val27Ile;Glu114Gly] al lele has been reported at a similar frequency (around 20%) in Korean hearing los s patients and controls (Choi 2011). In summary, the p.[Val27Ile;Glu114Gly] comb ined allele is not expected to have clinical significance based on its relativel y equal frequency in affected and control cohorts. (less)
Number of individuals with the variant: 37
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Benign
(Apr 20, 2021)
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criteria provided, single submitter
Method: clinical testing
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not specified
Affected status: unknown
Allele origin:
germline
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Women's Health and Genetics/Laboratory Corporation of America, LabCorp
Accession: SCV001623084.1
First in ClinVar: May 23, 2021 Last updated: May 23, 2021 |
Comment:
Variant summary: GJB2 c.[79G>A;341A>G] (p.[Val27Ile;Glu114Gly]) is a complex allele and involves the alteration of multiple nucleotides. This complex variant has been detected in individuals with … (more)
Variant summary: GJB2 c.[79G>A;341A>G] (p.[Val27Ile;Glu114Gly]) is a complex allele and involves the alteration of multiple nucleotides. This complex variant has been detected in individuals with Non-Syndromic Hearing Loss as well as controls, predominantly in individuals of East Asian ethnicity (e.g. Cheng_2009, Choi_2011, Zainal_2012). These reports do not provide unequivocal conclusions about association of the variant with Non-Syndromic Hearing Loss. The presence of this variant at similar frequencies in both cases and controls, including as homozygous in multiple individuals without hearing loss, supports the notion that this complex variant is unlikely to be pathogenic (e.g. Choi_2011, Chen_2016). c.[79G>A;341A>G] has also been reported in the literature in individuals affected with Non-Syndromic Hearing Loss in cis with other known pathogenic variants (e.g.Dai_2009, Tekin_2010), providing supporting evidence for a benign role for the complex variant. Several publications report experimental evidence evaluating an impact on protein function with conflicting conclusions, however indicate that the variant retained at least some normal GJ channel activity (e.g. Tekin_2010, Choi_2011, Ogawa_2014). No other clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014. Based on the evidence outlined above, the variant was classified as benign. (less)
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Germline Functional Evidence
There is no functional evidence in ClinVar for this variation. If you have generated functional data for this variation, please consider submitting that data to ClinVar. |
Citations for germline classification of this variant
HelpTitle | Author | Journal | Year | Link |
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Long Term Speech Perception Outcomes of Cochlear Implantation in Gap Junction Protein Beta 2 Related Hearing Loss. | Kim SH | Journal of audiology & otology | 2017 | PMID: 28704896 |
Concomitant imaging and genetic findings in children with unilateral sensorineural hearing loss. | Gruber M | The Journal of laryngology and otology | 2017 | PMID: 28651654 |
Mutation analysis of common GJB2, SCL26A4 and 12S rRNA genes among 380 deafness patients in northern China. | Pan J | International journal of pediatric otorhinolaryngology | 2017 | PMID: 28583500 |
Reassessment of Genomic Sequence Variation to Harmonize Interpretation for Personalized Medicine. | Garber KB | American journal of human genetics | 2016 | PMID: 27843123 |
Prevalence of GJB2 gene mutation in 330 cochlear implant patients in the Jiangsu province. | Shi L | The Journal of laryngology and otology | 2016 | PMID: 27534436 |
Evaluation of ACMG-Guideline-Based Variant Classification of Cancer Susceptibility and Non-Cancer-Associated Genes in Families Affected by Breast Cancer. | Maxwell KN | American journal of human genetics | 2016 | PMID: 27153395 |
Evaluation of ACMG-Guideline-Based Variant Classification of Cancer Susceptibility and Non-Cancer-Associated Genes in Families Affected by Breast Cancer. | Maxwell KN | American journal of human genetics | 2016 | PMID: 27153395 |
The homozygote p.V27I/p.E114G variant of GJB2 is a putative indicator of nonsyndromic hearing loss in Chinese infants. | Chen WX | International journal of pediatric otorhinolaryngology | 2016 | PMID: 27063752 |
The homozygote p.V27I/p.E114G variant of GJB2 is a putative indicator of nonsyndromic hearing loss in Chinese infants. | Chen WX | International journal of pediatric otorhinolaryngology | 2016 | PMID: 27063752 |
NGS-Based Assay for the Identification of Individuals Carrying Recessive Genetic Mutations in Reproductive Medicine. | Abulí A | Human mutation | 2016 | PMID: 26990548 |
Prevalence and audiological profiles of GJB2 mutations in a large collective of hearing impaired patients. | Burke WF | Hearing research | 2016 | PMID: 26778469 |
Prevalence of p.V37I variant of GJB2 among Chinese infants with mild or moderate hearing loss. | Huang Y | International journal of clinical and experimental medicine | 2015 | PMID: 26885124 |
The Prevalence of Gap Junction Protein Beta 2 (GJB2) Mutations in Non Syndromic Sensorineural Hearing Loss in Çukurova Region. | Bozdoğan ST | The journal of international advanced otology | 2015 | PMID: 26381000 |
A study of deafness-related genetic mutations as a basis for strategies to prevent hereditary hearing loss in Hebei, China. | Zhu J | Intractable & rare diseases research | 2015 | PMID: 26361564 |
Cordblood-Based High-Throughput Screening for Deafness Gene of 646 Newborns in Jinan Area of China. | Li SX | Clinical and experimental otorhinolaryngology | 2015 | PMID: 26330914 |
Mutation Spectrum of Common Deafness-Causing Genes in Patients with Non-Syndromic Deafness in the Xiamen Area, China. | Jiang Y | PloS one | 2015 | PMID: 26252218 |
Spectrum and frequency of GJB2, GJB6 and SLC26A4 gene mutations among nonsyndromic hearing loss patients in eastern part of India. | Adhikary B | Gene | 2015 | PMID: 26188157 |
Carrier frequency of the GJB2 mutations that cause hereditary hearing loss in the Japanese population. | Taniguchi M | Journal of human genetics | 2015 | PMID: 26178431 |
Correlation analysis of phenotype and genotype of GJB2 in patients with non-syndromic hearing loss in China. | Dai ZY | Gene | 2015 | PMID: 26095810 |
GJB2 Mutation Spectrum and Genotype-Phenotype Correlation in 1067 Han Chinese Subjects with Non-Syndromic Hearing Loss. | Zheng J | PloS one | 2015 | PMID: 26043044 |
SNPscan as a high-performance screening tool for mutation hotspots of hearing loss-associated genes. | Li H | Genomics | 2015 | PMID: 26004784 |
Bioinformatic Analysis of GJB2 Gene Missense Mutations. | Yilmaz A | Cell biochemistry and biophysics | 2015 | PMID: 25388846 |
Bioinformatic Analysis of GJB2 Gene Missense Mutations. | Yilmaz A | Cell biochemistry and biophysics | 2015 | PMID: 25388846 |
The promoter mutation c.-259C>T (-3438C>T) is not a common cause of non-syndromic hearing impairment in Austria. | Koenighofer M | European archives of oto-rhino-laryngology : official journal of the European Federation of Oto-Rhino-Laryngological Societies (EUFOS) : affiliated with the German Society for Oto-Rhino-Laryngology - Head and Neck Surgery | 2015 | PMID: 25085637 |
Utilizing ethnic-specific differences in minor allele frequency to recategorize reported pathogenic deafness variants. | Shearer AE | American journal of human genetics | 2014 | PMID: 25262649 |
Utilizing ethnic-specific differences in minor allele frequency to recategorize reported pathogenic deafness variants. | Shearer AE | American journal of human genetics | 2014 | PMID: 25262649 |
Revertant mutation releases confined lethal mutation, opening Pandora's box: a novel genetic pathogenesis. | Ogawa Y | PLoS genetics | 2014 | PMID: 24785414 |
Revertant mutation releases confined lethal mutation, opening Pandora's box: a novel genetic pathogenesis. | Ogawa Y | PLoS genetics | 2014 | PMID: 24785414 |
Prevalence and range of GJB2 and SLC26A4 mutations in patients with autosomal recessive non‑syndromic hearing loss. | Jiang H | Molecular medicine reports | 2014 | PMID: 24737404 |
Update of the spectrum of GJB2 mutations in 107 patients with nonsyndromic hearing loss in the Fujian population of China. | Chen T | Annals of human genetics | 2014 | PMID: 24645897 |
Update of the spectrum of GJB2 mutations in 107 patients with nonsyndromic hearing loss in the Fujian population of China. | Chen T | Annals of human genetics | 2014 | PMID: 24645897 |
Spectrum and frequency of GJB2 mutations causing deafness in the northwest of Iran. | Bonyadi MJ | International journal of pediatric otorhinolaryngology | 2014 | PMID: 24529908 |
Prevalence of GJB2 mutations in the Silk Road region of China and a report of three novel variants. | Du W | Acta oto-laryngologica | 2014 | PMID: 24256046 |
Identification of four novel connexin 26 mutations in non-syndromic deaf patients: genotype-phenotype analysis in moderate cases. | Dalamón V | Molecular biology reports | 2013 | PMID: 24158611 |
Genetic mutations of GJB2 and mitochondrial 12S rRNA in nonsyndromic hearing loss in Jiangsu Province of China. | Wei Q | Journal of translational medicine | 2013 | PMID: 23826813 |
Genetic mutations of GJB2 and mitochondrial 12S rRNA in nonsyndromic hearing loss in Jiangsu Province of China. | Wei Q | Journal of translational medicine | 2013 | PMID: 23826813 |
Genetic mutations of GJB2 and mitochondrial 12S rRNA in nonsyndromic hearing loss in Jiangsu Province of China. | Wei Q | Journal of translational medicine | 2013 | PMID: 23826813 |
Does congenital cytomegalovirus infection lead to hearing loss by inducing mutation of the GJB2 gene? | Li LQ | Pediatric research | 2013 | PMID: 23665763 |
Novel mutations of SLC26A4 in Chinese patients with nonsyndromic hearing loss. | Yao G | Acta oto-laryngologica | 2013 | PMID: 23638949 |
Novel mutations of SLC26A4 in Chinese patients with nonsyndromic hearing loss. | Yao G | Acta oto-laryngologica | 2013 | PMID: 23638949 |
Etiology and audiological outcomes at 3 years for 364 children in Australia. | Dahl HH | PloS one | 2013 | PMID: 23555729 |
A study of GJB2 and delGJB6-D13S1830 mutations in Brazilian non-syndromic deaf children from the Amazon region. | Castro LS | Brazilian journal of otorhinolaryngology | 2013 | PMID: 23503914 |
Congenital cholesteatoma and cochlear implantation: Implications for management. | Chung J | Cochlear implants international | 2013 | PMID: 22450542 |
Mutation detection in GJB2 gene among Malays with non-syndromic hearing loss. | Zainal SA | International journal of pediatric otorhinolaryngology | 2012 | PMID: 22613756 |
Mutation detection in GJB2 gene among Malays with non-syndromic hearing loss. | Zainal SA | International journal of pediatric otorhinolaryngology | 2012 | PMID: 22613756 |
Mutation detection in GJB2 gene among Malays with non-syndromic hearing loss. | Zainal SA | International journal of pediatric otorhinolaryngology | 2012 | PMID: 22613756 |
[Changes in the connexin 26 (GJB2) gene in Russian patients with hearing disorders: results of long-term molecular diagnostics of hereditary nonsyndromic deafness]. | Bliznets EA | Genetika | 2012 | PMID: 22567861 |
Allelic discrimination of cis-trans relationships by digital polymerase chain reaction: GJB2 (p.V27I/p.E114G) and CFTR (p.R117H/5T). | Chen N | Genetics in medicine : official journal of the American College of Medical Genetics | 2011 | PMID: 21836520 |
Functional evaluation of GJB2 variants in nonsyndromic hearing loss. | Choi SY | Molecular medicine (Cambridge, Mass.) | 2011 | PMID: 21298213 |
Functional evaluation of GJB2 variants in nonsyndromic hearing loss. | Choi SY | Molecular medicine (Cambridge, Mass.) | 2011 | PMID: 21298213 |
Functional evaluation of GJB2 variants in nonsyndromic hearing loss. | Choi SY | Molecular medicine (Cambridge, Mass.) | 2011 | PMID: 21298213 |
Prevalence of GJB2-associated deafness and outcomes of cochlear implantation in Iran. | Daneshi A | The Journal of laryngology and otology | 2011 | PMID: 21281533 |
Prevalence of GJB2-associated deafness and outcomes of cochlear implantation in Iran. | Daneshi A | The Journal of laryngology and otology | 2011 | PMID: 21281533 |
Genotyping with a 198 mutation arrayed primer extension array for hereditary hearing loss: assessment of its diagnostic value for medical practice. | Rodriguez-Paris J | PloS one | 2010 | PMID: 20668687 |
Genotyping with a 198 mutation arrayed primer extension array for hereditary hearing loss: assessment of its diagnostic value for medical practice. | Rodriguez-Paris J | PloS one | 2010 | PMID: 20668687 |
Genotyping with a 198 mutation arrayed primer extension array for hereditary hearing loss: assessment of its diagnostic value for medical practice. | Rodriguez-Paris J | PloS one | 2010 | PMID: 20668687 |
Sequence Variations and Haplotypes of the GJB2 Gene Revealed by Resequencing of 192 Chromosomes from the General Population in Korea. | Kim HJ | Clinical and experimental otorhinolaryngology | 2010 | PMID: 20607074 |
Sequence Variations and Haplotypes of the GJB2 Gene Revealed by Resequencing of 192 Chromosomes from the General Population in Korea. | Kim HJ | Clinical and experimental otorhinolaryngology | 2010 | PMID: 20607074 |
A large cohort study of GJB2 mutations in Japanese hearing loss patients. | Tsukada K | Clinical genetics | 2010 | PMID: 20497192 |
A large cohort study of GJB2 mutations in Japanese hearing loss patients. | Tsukada K | Clinical genetics | 2010 | PMID: 20497192 |
GJB2 mutations in Mongolia: complex alleles, low frequency, and reduced fitness of the deaf. | Tekin M | Annals of human genetics | 2010 | PMID: 20201936 |
GJB2 mutations in Mongolia: complex alleles, low frequency, and reduced fitness of the deaf. | Tekin M | Annals of human genetics | 2010 | PMID: 20201936 |
GJB2 mutations in Mongolia: complex alleles, low frequency, and reduced fitness of the deaf. | Tekin M | Annals of human genetics | 2010 | PMID: 20201936 |
Audiologic phenotype and progression in GJB2 (Connexin 26) hearing loss. | Kenna MA | Archives of otolaryngology--head & neck surgery | 2010 | PMID: 20083784 |
Single nucleotide polymorphisms and haplotypes analysis of DFNB1 locus in Chinese sporadic hearing impairment population. | Cheng HB | Chinese medical journal | 2009 | PMID: 19719946 |
Single nucleotide polymorphisms and haplotypes analysis of DFNB1 locus in Chinese sporadic hearing impairment population. | Cheng HB | Chinese medical journal | 2009 | PMID: 19719946 |
High prevalence of the connexin 26 (GJB2) mutation in Chinese cochlear implant recipients. | Chen D | ORL; journal for oto-rhino-laryngology and its related specialties | 2009 | PMID: 19707039 |
High prevalence of the connexin 26 (GJB2) mutation in Chinese cochlear implant recipients. | Chen D | ORL; journal for oto-rhino-laryngology and its related specialties | 2009 | PMID: 19707039 |
GJB2 mutation spectrum in 2,063 Chinese patients with nonsyndromic hearing impairment. | Dai P | Journal of translational medicine | 2009 | PMID: 19366456 |
GJB2 mutation spectrum in 2,063 Chinese patients with nonsyndromic hearing impairment. | Dai P | Journal of translational medicine | 2009 | PMID: 19366456 |
A multicenter study of the frequency and distribution of GJB2 and GJB6 mutations in a large North American cohort. | Putcha GV | Genetics in medicine : official journal of the American College of Medical Genetics | 2007 | PMID: 17666888 |
Loss of function mutations of the GJB2 gene detected in patients with DFNB1-associated hearing impairment. | Palmada M | Neurobiology of disease | 2006 | PMID: 16300957 |
First molecular screening of deafness in the Altai Republic population. | Posukh O | BMC medical genetics | 2005 | PMID: 15790391 |
First molecular screening of deafness in the Altai Republic population. | Posukh O | BMC medical genetics | 2005 | PMID: 15790391 |
GJB2 mutations: passage through Iran. | Najmabadi H | American journal of medical genetics. Part A | 2005 | PMID: 15666300 |
GJB2 gene mutations in newborns with non-syndromic hearing impairment in Northern China. | Shi GZ | Hearing research | 2004 | PMID: 15504600 |
GJB2 gene mutations in newborns with non-syndromic hearing impairment in Northern China. | Shi GZ | Hearing research | 2004 | PMID: 15504600 |
High prevalence of V37I genetic variant in the connexin-26 (GJB2) gene among non-syndromic hearing-impaired and control Thai individuals. | Wattanasirichaigoon D | Clinical genetics | 2004 | PMID: 15479191 |
High prevalence of V37I genetic variant in the connexin-26 (GJB2) gene among non-syndromic hearing-impaired and control Thai individuals. | Wattanasirichaigoon D | Clinical genetics | 2004 | PMID: 15479191 |
Molecular epidemiology of DFNB1 deafness in France. | Roux AF | BMC medical genetics | 2004 | PMID: 15070423 |
Molecular epidemiology of DFNB1 deafness in France. | Roux AF | BMC medical genetics | 2004 | PMID: 15070423 |
Evidence of a founder effect for the 235delC mutation of GJB2 (connexin 26) in east Asians. | Yan D | Human genetics | 2003 | PMID: 14505035 |
Frequency and distribution of GJB2 (connexin 26) and GJB6 (connexin 30) mutations in a large North American repository of deaf probands. | Pandya A | Genetics in medicine : official journal of the American College of Medical Genetics | 2003 | PMID: 12865758 |
Frequency and distribution of GJB2 (connexin 26) and GJB6 (connexin 30) mutations in a large North American repository of deaf probands. | Pandya A | Genetics in medicine : official journal of the American College of Medical Genetics | 2003 | PMID: 12865758 |
Mutation spectrum of the connexin 26 (GJB2) gene in Taiwanese patients with prelingual deafness. | Hwa HL | Genetics in medicine : official journal of the American College of Medical Genetics | 2003 | PMID: 12792423 |
Contribution of connexin26 (GJB2) mutations and founder effect to non-syndromic hearing loss in India. | RamShankar M | Journal of medical genetics | 2003 | PMID: 12746422 |
Spectrum of GJB2 mutations in Turkey comprises both Caucasian and Oriental variants: roles of parental consanguinity and assortative mating. | Tekin M | Human mutation | 2003 | PMID: 12673800 |
Functional study of GJB2 in hereditary hearing loss. | Choung YH | The Laryngoscope | 2002 | PMID: 12352684 |
Effectiveness of sequencing connexin 26 (GJB2) in cases of familial or sporadic childhood deafness referred for molecular diagnostic testing. | Wu BL | Genetics in medicine : official journal of the American College of Medical Genetics | 2002 | PMID: 12172394 |
Effectiveness of sequencing connexin 26 (GJB2) in cases of familial or sporadic childhood deafness referred for molecular diagnostic testing. | Wu BL | Genetics in medicine : official journal of the American College of Medical Genetics | 2002 | PMID: 12172394 |
GJB2 (connexin 26) variants and nonsyndromic sensorineural hearing loss: a HuGE review. | Kenneson A | Genetics in medicine : official journal of the American College of Medical Genetics | 2002 | PMID: 12172392 |
GJB2 (connexin 26) mutations and childhood deafness in Thailand. | Kudo T | Otology & neurotology : official publication of the American Otological Society, American Neurotology Society [and] European Academy of Otology and Neurotology | 2001 | PMID: 11698809 |
GJB2 (connexin 26) mutations and childhood deafness in Thailand. | Kudo T | Otology & neurotology : official publication of the American Otological Society, American Neurotology Society [and] European Academy of Otology and Neurotology | 2001 | PMID: 11698809 |
Connexin 26 studies in patients with sensorineural hearing loss. | Kenna MA | Archives of otolaryngology--head & neck surgery | 2001 | PMID: 11556849 |
Recurrent mutations in the deafness gene GJB2 (connexin 26) in British Asian families. | Rickard S | Journal of medical genetics | 2001 | PMID: 11494963 |
Recurrent mutations in the deafness gene GJB2 (connexin 26) in British Asian families. | Rickard S | Journal of medical genetics | 2001 | PMID: 11494963 |
Connexin 26 gene mutations in congenitally deaf children: pitfalls for genetic counseling. | Marlin S | Archives of otolaryngology--head & neck surgery | 2001 | PMID: 11493200 |
Connexin 26 gene mutations in congenitally deaf children: pitfalls for genetic counseling. | Marlin S | Archives of otolaryngology--head & neck surgery | 2001 | PMID: 11493200 |
Connexin26 mutations associated with nonsyndromic hearing loss. | Park HJ | The Laryngoscope | 2000 | PMID: 10983956 |
Connexin26 mutations associated with nonsyndromic hearing loss. | Park HJ | The Laryngoscope | 2000 | PMID: 10983956 |
Connexin26 mutations associated with nonsyndromic hearing loss. | Park HJ | The Laryngoscope | 2000 | PMID: 10983956 |
Prevalent connexin 26 gene (GJB2) mutations in Japanese. | Abe S | Journal of medical genetics | 2000 | PMID: 10633133 |
Prevalent connexin 26 gene (GJB2) mutations in Japanese. | Abe S | Journal of medical genetics | 2000 | PMID: 10633133 |
Novel mutations in the connexin 26 gene (GJB2) responsible for childhood deafness in the Japanese population. | Kudo T | American journal of medical genetics | 2000 | PMID: 10607953 |
Novel mutations in the connexin 26 gene (GJB2) responsible for childhood deafness in the Japanese population. | Kudo T | American journal of medical genetics | 2000 | PMID: 10607953 |
Novel mutations in the connexin 26 gene (GJB2) that cause autosomal recessive (DFNB1) hearing loss. | Kelley PM | American journal of human genetics | 1998 | PMID: 9529365 |
Novel mutations in the connexin 26 gene (GJB2) that cause autosomal recessive (DFNB1) hearing loss. | Kelley PM | American journal of human genetics | 1998 | PMID: 9529365 |
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Text-mined citations for this variant ...
HelpRecord last updated Apr 20, 2024
This date represents the last time this VCV record was updated. The update may be due to an update to one of the included submitted records (SCVs), or due to an update that ClinVar made to the variant such as adding HGVS expressions or a rs number. So this date may be different from the date of the “most recent submission” reported at the top of this page.