chr13:20763554:A> Detail (hg19) (GJB2)

Information

Genome

Assembly Position
hg19 chr13:20,763,554-20,763,554
hg38 chr13:20,189,415-20,189,415 

HGVS

Type Transcript Protein
RefSeq NM_004004.5:c.167delT NP_003995.2:p.Leu56ArgfsTer26
Ensemble ENST00000382848.5:c.167delT ENST00000382848.5:p.Leu56ArgfsTer26
ENST00000382844.2:c.167delT ENST00000382844.2:p.Leu56ArgfsTer26
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:[No Data.]
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:<0.001

Prediction

ClinVar

Clinical Significance 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
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Pathogenic 2023-04-28 criteria provided, multiple submitters, no conflicts Autosomal recessive nonsyndromic hearing loss 1A germline unknown Detail
Pathogenic 2013-02-08 criteria provided, single submitter germline Detail
Pathogenic 2018-09-19 reviewed by expert panel Nonsyndromic genetic hearing loss germline Detail
Pathogenic 2024-01-31 criteria provided, multiple submitters, no conflicts not provided germline unknown Detail
Pathogenic 2022-05-04 criteria provided, single submitter Mutilating keratoderma germline Detail
Pathogenic 2018-05-16 criteria provided, single submitter GJB2-related disorder germline Detail
Pathogenic 2015-12-18 criteria provided, single submitter Autosomal dominant nonsyndromic hearing loss 3A unknown Detail
Pathogenic 2016-01-25 no assertion criteria provided Knuckle pads, deafness AND leukonychia syndrome,Mutilating keratoderma,Autosomal recessive nonsyndromic hearing loss 1A,palmoplantar keratoderma-deafness syndrome,Autosomal dominant nonsyndromic hearing loss 3A,Autosomal dominant keratitis-ichthyosis-hearing loss syndrome,Ichthyosis, hystrix-like, with hearing loss germline Detail
Pathogenic 2016-01-25 no assertion criteria provided Knuckle pads, deafness AND leukonychia syndrome,Mutilating keratoderma,Autosomal recessive nonsyndromic hearing loss 1A,palmoplantar keratoderma-deafness syndrome,Autosomal dominant nonsyndromic hearing loss 3A,Autosomal dominant keratitis-ichthyosis-hearing loss syndrome,Ichthyosis, hystrix-like, with hearing loss germline Detail
Pathogenic 2016-01-25 no assertion criteria provided Knuckle pads, deafness AND leukonychia syndrome,Mutilating keratoderma,Autosomal recessive nonsyndromic hearing loss 1A,palmoplantar keratoderma-deafness syndrome,Autosomal dominant nonsyndromic hearing loss 3A,Autosomal dominant keratitis-ichthyosis-hearing loss syndrome,Ichthyosis, hystrix-like, with hearing loss germline Detail
Pathogenic 2016-01-25 no assertion criteria provided Knuckle pads, deafness AND leukonychia syndrome,Mutilating keratoderma,Autosomal recessive nonsyndromic hearing loss 1A,palmoplantar keratoderma-deafness syndrome,Autosomal dominant nonsyndromic hearing loss 3A,Autosomal dominant keratitis-ichthyosis-hearing loss syndrome,Ichthyosis, hystrix-like, with hearing loss germline Detail
Pathogenic 2016-01-25 no assertion criteria provided Knuckle pads, deafness AND leukonychia syndrome,Mutilating keratoderma,Autosomal recessive nonsyndromic hearing loss 1A,palmoplantar keratoderma-deafness syndrome,Autosomal dominant nonsyndromic hearing loss 3A,Autosomal dominant keratitis-ichthyosis-hearing loss syndrome,Ichthyosis, hystrix-like, with hearing loss germline Detail
Pathogenic 2016-01-25 no assertion criteria provided Knuckle pads, deafness AND leukonychia syndrome,Mutilating keratoderma,Autosomal recessive nonsyndromic hearing loss 1A,palmoplantar keratoderma-deafness syndrome,Autosomal dominant nonsyndromic hearing loss 3A,Autosomal dominant keratitis-ichthyosis-hearing loss syndrome,Ichthyosis, hystrix-like, with hearing loss germline Detail
Pathogenic 2016-01-25 no assertion criteria provided Knuckle pads, deafness AND leukonychia syndrome,Mutilating keratoderma,Autosomal recessive nonsyndromic hearing loss 1A,palmoplantar keratoderma-deafness syndrome,Autosomal dominant nonsyndromic hearing loss 3A,Autosomal dominant keratitis-ichthyosis-hearing loss syndrome,Ichthyosis, hystrix-like, with hearing loss germline Detail
Pathogenic 2013-05-22 no assertion criteria provided germline Detail
Pathogenic 2011-12-08 criteria provided, single submitter Rare genetic deafness germline Detail
Pathogenic criteria provided, single submitter Autosomal recessive nonsyndromic hearing loss 1B,Autosomal recessive nonsyndromic hearing loss 1A germline Detail
Pathogenic criteria provided, single submitter Autosomal recessive nonsyndromic hearing loss 1B,Autosomal recessive nonsyndromic hearing loss 1A germline Detail
Pathogenic 2021-12-08 criteria provided, single submitter germline Detail
Pathogenic 2020-07-02 criteria provided, single submitter Autosomal recessive nonsyndromic hearing loss 1A germline Detail
Pathogenic 2022-02-16 criteria provided, single submitter Autosomal dominant keratitis-ichthyosis-hearing loss syndrome,X-linked mixed hearing loss with perilymphatic gusher,Mutilating keratoderma,Knuckle pads, deafness AND leukonychia syndrome,Autosomal dominant nonsyndromic hearing loss 3A,palmoplantar keratoderma-deafness syndrome,Ichthyosis, hystrix-like, with hearing loss,Autosomal recessive nonsyndromic hearing loss 1A unknown Detail
Pathogenic 2022-02-16 criteria provided, single submitter Autosomal dominant keratitis-ichthyosis-hearing loss syndrome,X-linked mixed hearing loss with perilymphatic gusher,Mutilating keratoderma,Knuckle pads, deafness AND leukonychia syndrome,Autosomal dominant nonsyndromic hearing loss 3A,palmoplantar keratoderma-deafness syndrome,Ichthyosis, hystrix-like, with hearing loss,Autosomal recessive nonsyndromic hearing loss 1A unknown Detail
Pathogenic 2022-02-16 criteria provided, single submitter Autosomal dominant keratitis-ichthyosis-hearing loss syndrome,X-linked mixed hearing loss with perilymphatic gusher,Mutilating keratoderma,Knuckle pads, deafness AND leukonychia syndrome,Autosomal dominant nonsyndromic hearing loss 3A,palmoplantar keratoderma-deafness syndrome,Ichthyosis, hystrix-like, with hearing loss,Autosomal recessive nonsyndromic hearing loss 1A unknown Detail
Pathogenic 2022-02-16 criteria provided, single submitter Autosomal dominant keratitis-ichthyosis-hearing loss syndrome,X-linked mixed hearing loss with perilymphatic gusher,Mutilating keratoderma,Knuckle pads, deafness AND leukonychia syndrome,Autosomal dominant nonsyndromic hearing loss 3A,palmoplantar keratoderma-deafness syndrome,Ichthyosis, hystrix-like, with hearing loss,Autosomal recessive nonsyndromic hearing loss 1A unknown Detail
Pathogenic 2022-02-16 criteria provided, single submitter Autosomal dominant keratitis-ichthyosis-hearing loss syndrome,X-linked mixed hearing loss with perilymphatic gusher,Mutilating keratoderma,Knuckle pads, deafness AND leukonychia syndrome,Autosomal dominant nonsyndromic hearing loss 3A,palmoplantar keratoderma-deafness syndrome,Ichthyosis, hystrix-like, with hearing loss,Autosomal recessive nonsyndromic hearing loss 1A unknown Detail
Pathogenic 2022-02-16 criteria provided, single submitter Autosomal dominant keratitis-ichthyosis-hearing loss syndrome,X-linked mixed hearing loss with perilymphatic gusher,Mutilating keratoderma,Knuckle pads, deafness AND leukonychia syndrome,Autosomal dominant nonsyndromic hearing loss 3A,palmoplantar keratoderma-deafness syndrome,Ichthyosis, hystrix-like, with hearing loss,Autosomal recessive nonsyndromic hearing loss 1A unknown Detail
Pathogenic 2022-02-16 criteria provided, single submitter Autosomal dominant keratitis-ichthyosis-hearing loss syndrome,X-linked mixed hearing loss with perilymphatic gusher,Mutilating keratoderma,Knuckle pads, deafness AND leukonychia syndrome,Autosomal dominant nonsyndromic hearing loss 3A,palmoplantar keratoderma-deafness syndrome,Ichthyosis, hystrix-like, with hearing loss,Autosomal recessive nonsyndromic hearing loss 1A unknown Detail
Pathogenic 2022-02-16 criteria provided, single submitter Autosomal dominant keratitis-ichthyosis-hearing loss syndrome,X-linked mixed hearing loss with perilymphatic gusher,Mutilating keratoderma,Knuckle pads, deafness AND leukonychia syndrome,Autosomal dominant nonsyndromic hearing loss 3A,palmoplantar keratoderma-deafness syndrome,Ichthyosis, hystrix-like, with hearing loss,Autosomal recessive nonsyndromic hearing loss 1A unknown Detail
Pathogenic 2020-02-11 criteria provided, single submitter Inborn genetic diseases germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.440 DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder) NA CLINVAR Detail
Annotation

Annotations

DescrptionSourceLinks
NM_004004.6(GJB2):c.167del (p.Leu56fs) AND Autosomal recessive nonsyndromic hearing loss 1A ClinVar Detail
NM_004004.6(GJB2):c.167del (p.Leu56fs) AND Hearing impairment ClinVar Detail
NM_004004.6(GJB2):c.167del (p.Leu56fs) AND Nonsyndromic genetic hearing loss ClinVar Detail
NM_004004.6(GJB2):c.167del (p.Leu56fs) AND not provided ClinVar Detail
NM_004004.6(GJB2):c.167del (p.Leu56fs) AND Mutilating keratoderma ClinVar Detail
NM_004004.6(GJB2):c.167del (p.Leu56fs) AND GJB2-related disorder ClinVar Detail
NM_004004.6(GJB2):c.167del (p.Leu56fs) AND Autosomal dominant nonsyndromic hearing loss 3A ClinVar Detail
NM_004004.6(GJB2):c.167del (p.Leu56fs) AND multiple conditions ClinVar Detail
NM_004004.6(GJB2):c.167del (p.Leu56fs) AND multiple conditions ClinVar Detail
NM_004004.6(GJB2):c.167del (p.Leu56fs) AND multiple conditions ClinVar Detail
NM_004004.6(GJB2):c.167del (p.Leu56fs) AND multiple conditions ClinVar Detail
NM_004004.6(GJB2):c.167del (p.Leu56fs) AND multiple conditions ClinVar Detail
NM_004004.6(GJB2):c.167del (p.Leu56fs) AND multiple conditions ClinVar Detail
NM_004004.6(GJB2):c.167del (p.Leu56fs) AND multiple conditions ClinVar Detail
NM_004004.6(GJB2):c.167del (p.Leu56fs) AND Hearing loss ClinVar Detail
NM_004004.6(GJB2):c.167del (p.Leu56fs) AND Rare genetic deafness ClinVar Detail
NM_004004.6(GJB2):c.167del (p.Leu56fs) AND multiple conditions ClinVar Detail
NM_004004.6(GJB2):c.167del (p.Leu56fs) AND multiple conditions ClinVar Detail
NM_004004.6(GJB2):c.167del (p.Leu56fs) AND See cases ClinVar Detail
NM_004004.6(GJB2):c.167del (p.Leu56fs) AND Autosomal recessive nonsyndromic hearing loss 1A ClinVar Detail
NM_004004.6(GJB2):c.167del (p.Leu56fs) AND multiple conditions ClinVar Detail
NM_004004.6(GJB2):c.167del (p.Leu56fs) AND multiple conditions ClinVar Detail
NM_004004.6(GJB2):c.167del (p.Leu56fs) AND multiple conditions ClinVar Detail
NM_004004.6(GJB2):c.167del (p.Leu56fs) AND multiple conditions ClinVar Detail
NM_004004.6(GJB2):c.167del (p.Leu56fs) AND multiple conditions ClinVar Detail
NM_004004.6(GJB2):c.167del (p.Leu56fs) AND multiple conditions ClinVar Detail
NM_004004.6(GJB2):c.167del (p.Leu56fs) AND multiple conditions ClinVar Detail
NM_004004.6(GJB2):c.167del (p.Leu56fs) AND multiple conditions ClinVar Detail
NM_004004.6(GJB2):c.167del (p.Leu56fs) AND Inborn genetic diseases ClinVar Detail
NA 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
rs80338942 dbSNP
Genome
hg19
Position
chr13:20,763,554-20,763,554
Variant Type
snv
Reference Allele
A
Alternative Allele
-
East Asian Chromosome Counts (ExAC)
8652
East Asian Allele Counts (ExAC)
0
East Asian Heterozygous Counts (ExAC)
0
East Asian Homozygous Counts (ExAC)
0
East Asian Allele Frequency (ExAC)
0.0
Chromosome Counts in All Race (ExAC)
121310
Allele Counts in All Race (ExAC)
83
Heterozygous Counts in All Race (ExAC)
77
Homozygous Counts in All Race (ExAC)
3
Allele Frequency in All Race (ExAC)
6.84197510510263E-4
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