chr13:20189548:C>A Detail (hg38) (GJB2)
Information
Genome
Assembly | Position |
---|---|
hg19 | chr13:20,763,687-20,763,687 View the variant detail on this assembly version. |
hg38 | chr13:20,189,548-20,189,548 |
HGVS
Type | Transcript | Protein |
---|---|---|
RefSeq | NM_004004.5:c.34G>T | NP_003995.2:p.Gly12Cys |
Ensemble | ENST00000382844.2:c.34G>T | ENST00000382844.2:p.Gly12Cys |
ENST00000382848.5:c.34G>T | ENST00000382848.5:p.Gly12Cys |
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 |
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Review star | ![]() |
Show details |
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
---|---|---|---|---|---|
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2022-10-19 | reviewed by expert panel | Nonsyndromic genetic hearing loss |
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Detail |
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2024-01-21 | criteria provided, multiple submitters, no conflicts | not provided |
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Detail |
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2013-02-08 | criteria provided, single submitter |
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Detail | |
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2023-06-02 | criteria provided, multiple submitters, no conflicts | Autosomal recessive nonsyndromic hearing loss 1A |
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Detail |
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2016-04-18 | criteria provided, single submitter | Autosomal dominant nonsyndromic hearing loss 3A |
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Detail |
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2017-01-25 | no assertion criteria provided |
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Detail | |
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2022-01-14 | criteria provided, single submitter | Autosomal recessive nonsyndromic hearing loss 1A,Knuckle pads, deafness AND leukonychia syndrome,Mutilating keratoderma,palmoplantar keratoderma-deafness syndrome,Autosomal dominant keratitis-ichthyosis-hearing loss syndrome,Autosomal dominant nonsyndromic hearing loss 3A,Ichthyosis, hystrix-like, with hearing loss,X-linked mixed hearing loss with perilymphatic gusher |
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Detail |
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2022-01-14 | criteria provided, single submitter | Autosomal recessive nonsyndromic hearing loss 1A,Knuckle pads, deafness AND leukonychia syndrome,Mutilating keratoderma,palmoplantar keratoderma-deafness syndrome,Autosomal dominant keratitis-ichthyosis-hearing loss syndrome,Autosomal dominant nonsyndromic hearing loss 3A,Ichthyosis, hystrix-like, with hearing loss,X-linked mixed hearing loss with perilymphatic gusher |
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Detail |
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2022-01-14 | criteria provided, single submitter | Autosomal recessive nonsyndromic hearing loss 1A,Knuckle pads, deafness AND leukonychia syndrome,Mutilating keratoderma,palmoplantar keratoderma-deafness syndrome,Autosomal dominant keratitis-ichthyosis-hearing loss syndrome,Autosomal dominant nonsyndromic hearing loss 3A,Ichthyosis, hystrix-like, with hearing loss,X-linked mixed hearing loss with perilymphatic gusher |
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Detail |
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2022-01-14 | criteria provided, single submitter | Autosomal recessive nonsyndromic hearing loss 1A,Knuckle pads, deafness AND leukonychia syndrome,Mutilating keratoderma,palmoplantar keratoderma-deafness syndrome,Autosomal dominant keratitis-ichthyosis-hearing loss syndrome,Autosomal dominant nonsyndromic hearing loss 3A,Ichthyosis, hystrix-like, with hearing loss,X-linked mixed hearing loss with perilymphatic gusher |
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Detail |
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2022-01-14 | criteria provided, single submitter | Autosomal recessive nonsyndromic hearing loss 1A,Knuckle pads, deafness AND leukonychia syndrome,Mutilating keratoderma,palmoplantar keratoderma-deafness syndrome,Autosomal dominant keratitis-ichthyosis-hearing loss syndrome,Autosomal dominant nonsyndromic hearing loss 3A,Ichthyosis, hystrix-like, with hearing loss,X-linked mixed hearing loss with perilymphatic gusher |
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Detail |
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2022-01-14 | criteria provided, single submitter | Autosomal recessive nonsyndromic hearing loss 1A,Knuckle pads, deafness AND leukonychia syndrome,Mutilating keratoderma,palmoplantar keratoderma-deafness syndrome,Autosomal dominant keratitis-ichthyosis-hearing loss syndrome,Autosomal dominant nonsyndromic hearing loss 3A,Ichthyosis, hystrix-like, with hearing loss,X-linked mixed hearing loss with perilymphatic gusher |
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Detail |
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2022-01-14 | criteria provided, single submitter | Autosomal recessive nonsyndromic hearing loss 1A,Knuckle pads, deafness AND leukonychia syndrome,Mutilating keratoderma,palmoplantar keratoderma-deafness syndrome,Autosomal dominant keratitis-ichthyosis-hearing loss syndrome,Autosomal dominant nonsyndromic hearing loss 3A,Ichthyosis, hystrix-like, with hearing loss,X-linked mixed hearing loss with perilymphatic gusher |
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Detail |
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2022-01-14 | criteria provided, single submitter | Autosomal recessive nonsyndromic hearing loss 1A,Knuckle pads, deafness AND leukonychia syndrome,Mutilating keratoderma,palmoplantar keratoderma-deafness syndrome,Autosomal dominant keratitis-ichthyosis-hearing loss syndrome,Autosomal dominant nonsyndromic hearing loss 3A,Ichthyosis, hystrix-like, with hearing loss,X-linked mixed hearing loss with perilymphatic gusher |
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Detail |
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2018-11-28 | criteria provided, single submitter | Rare genetic deafness |
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Detail |
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criteria provided, single submitter | Autosomal recessive nonsyndromic hearing loss 1A,Autosomal recessive nonsyndromic hearing loss 1B |
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Detail | |
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criteria provided, single submitter | Autosomal recessive nonsyndromic hearing loss 1A,Autosomal recessive nonsyndromic hearing loss 1B |
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Detail | |
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2022-05-04 | criteria provided, single submitter | Mutilating keratoderma |
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Detail |
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2021-03-30 | criteria provided, single submitter | Autosomal dominant keratitis-ichthyosis-hearing loss syndrome,palmoplantar keratoderma-deafness syndrome,Autosomal recessive nonsyndromic hearing loss 1A,Autosomal dominant nonsyndromic hearing loss 3A,Ichthyosis, hystrix-like, with hearing loss,Mutilating keratoderma,Knuckle pads, deafness AND leukonychia syndrome |
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Detail |
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2021-03-30 | criteria provided, single submitter | Autosomal dominant keratitis-ichthyosis-hearing loss syndrome,palmoplantar keratoderma-deafness syndrome,Autosomal recessive nonsyndromic hearing loss 1A,Autosomal dominant nonsyndromic hearing loss 3A,Ichthyosis, hystrix-like, with hearing loss,Mutilating keratoderma,Knuckle pads, deafness AND leukonychia syndrome |
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Detail |
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2021-03-30 | criteria provided, single submitter | Autosomal dominant keratitis-ichthyosis-hearing loss syndrome,palmoplantar keratoderma-deafness syndrome,Autosomal recessive nonsyndromic hearing loss 1A,Autosomal dominant nonsyndromic hearing loss 3A,Ichthyosis, hystrix-like, with hearing loss,Mutilating keratoderma,Knuckle pads, deafness AND leukonychia syndrome |
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Detail |
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2021-03-30 | criteria provided, single submitter | Autosomal dominant keratitis-ichthyosis-hearing loss syndrome,palmoplantar keratoderma-deafness syndrome,Autosomal recessive nonsyndromic hearing loss 1A,Autosomal dominant nonsyndromic hearing loss 3A,Ichthyosis, hystrix-like, with hearing loss,Mutilating keratoderma,Knuckle pads, deafness AND leukonychia syndrome |
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Detail |
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2021-03-30 | criteria provided, single submitter | Autosomal dominant keratitis-ichthyosis-hearing loss syndrome,palmoplantar keratoderma-deafness syndrome,Autosomal recessive nonsyndromic hearing loss 1A,Autosomal dominant nonsyndromic hearing loss 3A,Ichthyosis, hystrix-like, with hearing loss,Mutilating keratoderma,Knuckle pads, deafness AND leukonychia syndrome |
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Detail |
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2021-03-30 | criteria provided, single submitter | Autosomal dominant keratitis-ichthyosis-hearing loss syndrome,palmoplantar keratoderma-deafness syndrome,Autosomal recessive nonsyndromic hearing loss 1A,Autosomal dominant nonsyndromic hearing loss 3A,Ichthyosis, hystrix-like, with hearing loss,Mutilating keratoderma,Knuckle pads, deafness AND leukonychia syndrome |
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Detail |
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2021-03-30 | criteria provided, single submitter | Autosomal dominant keratitis-ichthyosis-hearing loss syndrome,palmoplantar keratoderma-deafness syndrome,Autosomal recessive nonsyndromic hearing loss 1A,Autosomal dominant nonsyndromic hearing loss 3A,Ichthyosis, hystrix-like, with hearing loss,Mutilating keratoderma,Knuckle pads, deafness AND leukonychia syndrome |
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Detail |
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2023-12-13 | criteria provided, single submitter | Autosomal recessive nonsyndromic hearing loss 1A |
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Detail |
CIViC
[No Data.]
DisGeNET
Score | Disease name | Description | Source | Pubmed | Links |
---|---|---|---|---|---|
0.440 | DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder) | NA | CLINVAR | Detail | |
0.328 | Senter syndrome | This article describes a patient with the G12R mutation and KID syndrome with in... | BeFree | 22011219 | Detail |
0.012 | Keratitis-Ichthyosis-Deafness Syndrome | Extending the phenotypic spectrum of keratitis-ichthyosis-deafness syndrome: rep... | BeFree | 22011219 | Detail |
0.121 | Porokeratotic eccrine ostial and dermal duct nevus | This article describes a patient with the G12R mutation and KID syndrome with in... | BeFree | 22011219 | Detail |
Annotation
Annotations
Descrption | Source | Links |
---|---|---|
NM_004004.6(GJB2):c.34G>T (p.Gly12Cys) AND Nonsyndromic genetic hearing loss | ClinVar | Detail |
NM_004004.6(GJB2):c.34G>T (p.Gly12Cys) AND not provided | ClinVar | Detail |
NM_004004.6(GJB2):c.34G>T (p.Gly12Cys) AND Hearing impairment | ClinVar | Detail |
NM_004004.6(GJB2):c.34G>T (p.Gly12Cys) AND Autosomal recessive nonsyndromic hearing loss 1A | ClinVar | Detail |
NM_004004.6(GJB2):c.34G>T (p.Gly12Cys) AND Autosomal dominant nonsyndromic hearing loss 3A | ClinVar | Detail |
NM_004004.6(GJB2):c.34G>T (p.Gly12Cys) AND Hearing loss | ClinVar | Detail |
NM_004004.6(GJB2):c.34G>T (p.Gly12Cys) AND multiple conditions | ClinVar | Detail |
NM_004004.6(GJB2):c.34G>T (p.Gly12Cys) AND multiple conditions | ClinVar | Detail |
NM_004004.6(GJB2):c.34G>T (p.Gly12Cys) AND multiple conditions | ClinVar | Detail |
NM_004004.6(GJB2):c.34G>T (p.Gly12Cys) AND multiple conditions | ClinVar | Detail |
NM_004004.6(GJB2):c.34G>T (p.Gly12Cys) AND multiple conditions | ClinVar | Detail |
NM_004004.6(GJB2):c.34G>T (p.Gly12Cys) AND multiple conditions | ClinVar | Detail |
NM_004004.6(GJB2):c.34G>T (p.Gly12Cys) AND multiple conditions | ClinVar | Detail |
NM_004004.6(GJB2):c.34G>T (p.Gly12Cys) AND multiple conditions | ClinVar | Detail |
NM_004004.6(GJB2):c.34G>T (p.Gly12Cys) AND Rare genetic deafness | ClinVar | Detail |
NM_004004.6(GJB2):c.34G>T (p.Gly12Cys) AND multiple conditions | ClinVar | Detail |
NM_004004.6(GJB2):c.34G>T (p.Gly12Cys) AND multiple conditions | ClinVar | Detail |
NM_004004.6(GJB2):c.34G>T (p.Gly12Cys) AND Mutilating keratoderma | ClinVar | Detail |
NM_004004.6(GJB2):c.34G>T (p.Gly12Cys) AND multiple conditions | ClinVar | Detail |
NM_004004.6(GJB2):c.34G>T (p.Gly12Cys) AND multiple conditions | ClinVar | Detail |
NM_004004.6(GJB2):c.34G>T (p.Gly12Cys) AND multiple conditions | ClinVar | Detail |
NM_004004.6(GJB2):c.34G>T (p.Gly12Cys) AND multiple conditions | ClinVar | Detail |
NM_004004.6(GJB2):c.34G>T (p.Gly12Cys) AND multiple conditions | ClinVar | Detail |
NM_004004.6(GJB2):c.34G>T (p.Gly12Cys) AND multiple conditions | ClinVar | Detail |
NM_004004.6(GJB2):c.34G>T (p.Gly12Cys) AND multiple conditions | ClinVar | Detail |
NM_004004.6(GJB2):c.34G>T (p.Gly12Cys) AND Autosomal recessive nonsyndromic hearing loss 1A | ClinVar | Detail |
NA | DisGeNET | Detail |
This article describes a patient with the G12R mutation and KID syndrome with interesting additional... | DisGeNET | Detail |
Extending the phenotypic spectrum of keratitis-ichthyosis-deafness syndrome: report of a patient wit... | DisGeNET | Detail |
This article describes a patient with the G12R mutation and KID syndrome with interesting additional... | 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
- rs104894408 dbSNP
- Genome
- hg38
- Position
- chr13:20,189,548-20,189,548
- Variant Type
- snv
- Reference Allele
- C
- Alternative Allele
- A
- East Asian Chromosome Counts (ExAC)
- 8654
- East Asian Allele Counts (ExAC)
- 1
- East Asian Heterozygous Counts (ExAC)
- 1
- East Asian Homozygous Counts (ExAC)
- 0
- East Asian Allele Frequency (ExAC)
- 1.1555350127108852E-4
- Chromosome Counts in All Race (ExAC)
- 119874
- Allele Counts in All Race (ExAC)
- 52
- Heterozygous Counts in All Race (ExAC)
- 52
- Homozygous Counts in All Race (ExAC)
- 0
- Allele Frequency in All Race (ExAC)
- 4.337888115854981E-4
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