chr13:20763471:C>G Detail (hg19) (GJB2)

Information

Genome

Assembly Position
hg19 chr13:20,763,471-20,763,471
hg38 chr13:20,189,332-20,189,332 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_004004.5:c.250G>C NP_003995.2:p.Val84Leu
Ensemble ENST00000382848.5:c.250G>C ENST00000382848.5:p.Val84Leu
ENST00000382844.2:c.250G>C ENST00000382844.2:p.Val84Leu
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 2023-06-02 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 2017-06-22 criteria provided, single submitter Rare genetic deafness germline Detail
Pathogenic 2023-12-14 criteria provided, multiple submitters, no conflicts not provided germline unknown Detail
Pathogenic 2020-08-21 criteria provided, single submitter Nonsyndromic genetic hearing loss germline Detail
Pathogenic 2021-10-08 criteria provided, single submitter Autosomal dominant keratitis-ichthyosis-hearing loss syndrome,Ichthyosis, hystrix-like, with hearing loss,Autosomal recessive nonsyndromic hearing loss 1A,Mutilating keratoderma,X-linked mixed hearing loss with perilymphatic gusher,Autosomal dominant nonsyndromic hearing loss 3A,palmoplantar keratoderma-deafness syndrome,Knuckle pads, deafness AND leukonychia syndrome unknown Detail
Pathogenic 2021-10-08 criteria provided, single submitter Autosomal dominant keratitis-ichthyosis-hearing loss syndrome,Ichthyosis, hystrix-like, with hearing loss,Autosomal recessive nonsyndromic hearing loss 1A,Mutilating keratoderma,X-linked mixed hearing loss with perilymphatic gusher,Autosomal dominant nonsyndromic hearing loss 3A,palmoplantar keratoderma-deafness syndrome,Knuckle pads, deafness AND leukonychia syndrome unknown Detail
Pathogenic 2021-10-08 criteria provided, single submitter Autosomal dominant keratitis-ichthyosis-hearing loss syndrome,Ichthyosis, hystrix-like, with hearing loss,Autosomal recessive nonsyndromic hearing loss 1A,Mutilating keratoderma,X-linked mixed hearing loss with perilymphatic gusher,Autosomal dominant nonsyndromic hearing loss 3A,palmoplantar keratoderma-deafness syndrome,Knuckle pads, deafness AND leukonychia syndrome unknown Detail
Pathogenic 2021-10-08 criteria provided, single submitter Autosomal dominant keratitis-ichthyosis-hearing loss syndrome,Ichthyosis, hystrix-like, with hearing loss,Autosomal recessive nonsyndromic hearing loss 1A,Mutilating keratoderma,X-linked mixed hearing loss with perilymphatic gusher,Autosomal dominant nonsyndromic hearing loss 3A,palmoplantar keratoderma-deafness syndrome,Knuckle pads, deafness AND leukonychia syndrome unknown Detail
Pathogenic 2021-10-08 criteria provided, single submitter Autosomal dominant keratitis-ichthyosis-hearing loss syndrome,Ichthyosis, hystrix-like, with hearing loss,Autosomal recessive nonsyndromic hearing loss 1A,Mutilating keratoderma,X-linked mixed hearing loss with perilymphatic gusher,Autosomal dominant nonsyndromic hearing loss 3A,palmoplantar keratoderma-deafness syndrome,Knuckle pads, deafness AND leukonychia syndrome unknown Detail
Pathogenic 2021-10-08 criteria provided, single submitter Autosomal dominant keratitis-ichthyosis-hearing loss syndrome,Ichthyosis, hystrix-like, with hearing loss,Autosomal recessive nonsyndromic hearing loss 1A,Mutilating keratoderma,X-linked mixed hearing loss with perilymphatic gusher,Autosomal dominant nonsyndromic hearing loss 3A,palmoplantar keratoderma-deafness syndrome,Knuckle pads, deafness AND leukonychia syndrome unknown Detail
Pathogenic 2021-10-08 criteria provided, single submitter Autosomal dominant keratitis-ichthyosis-hearing loss syndrome,Ichthyosis, hystrix-like, with hearing loss,Autosomal recessive nonsyndromic hearing loss 1A,Mutilating keratoderma,X-linked mixed hearing loss with perilymphatic gusher,Autosomal dominant nonsyndromic hearing loss 3A,palmoplantar keratoderma-deafness syndrome,Knuckle pads, deafness AND leukonychia syndrome unknown Detail
Pathogenic 2021-10-08 criteria provided, single submitter Autosomal dominant keratitis-ichthyosis-hearing loss syndrome,Ichthyosis, hystrix-like, with hearing loss,Autosomal recessive nonsyndromic hearing loss 1A,Mutilating keratoderma,X-linked mixed hearing loss with perilymphatic gusher,Autosomal dominant nonsyndromic hearing loss 3A,palmoplantar keratoderma-deafness syndrome,Knuckle pads, deafness AND leukonychia syndrome unknown Detail
Pathogenic criteria provided, single submitter GJB2-related disorder germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.440 DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder) NA CLINVAR Detail
0.345 Sensorineural Hearing Loss (disorder) Further studies are required to determine the exact mechanism by which mutant (V... BeFree 12562518 Detail
0.065 Hearing Loss, Mixed Conductive-Sensorineural This deletion was observed in trans to a GJB2 mutated allele carrying the p.Val8... BeFree 19101659 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_004004.6(GJB2):c.250G>C (p.Val84Leu) AND Autosomal recessive nonsyndromic hearing loss 1A ClinVar Detail
NM_004004.6(GJB2):c.250G>C (p.Val84Leu) AND Hearing impairment ClinVar Detail
NM_004004.6(GJB2):c.250G>C (p.Val84Leu) AND Rare genetic deafness ClinVar Detail
NM_004004.6(GJB2):c.250G>C (p.Val84Leu) AND not provided ClinVar Detail
NM_004004.6(GJB2):c.250G>C (p.Val84Leu) AND Nonsyndromic genetic hearing loss ClinVar Detail
NM_004004.6(GJB2):c.250G>C (p.Val84Leu) AND multiple conditions ClinVar Detail
NM_004004.6(GJB2):c.250G>C (p.Val84Leu) AND multiple conditions ClinVar Detail
NM_004004.6(GJB2):c.250G>C (p.Val84Leu) AND multiple conditions ClinVar Detail
NM_004004.6(GJB2):c.250G>C (p.Val84Leu) AND multiple conditions ClinVar Detail
NM_004004.6(GJB2):c.250G>C (p.Val84Leu) AND multiple conditions ClinVar Detail
NM_004004.6(GJB2):c.250G>C (p.Val84Leu) AND multiple conditions ClinVar Detail
NM_004004.6(GJB2):c.250G>C (p.Val84Leu) AND multiple conditions ClinVar Detail
NM_004004.6(GJB2):c.250G>C (p.Val84Leu) AND multiple conditions ClinVar Detail
NM_004004.6(GJB2):c.250G>C (p.Val84Leu) AND GJB2-related disorder ClinVar Detail
NA DisGeNET Detail
Further studies are required to determine the exact mechanism by which mutant (V84L), (V95M), and (R... DisGeNET Detail
This deletion was observed in trans to a GJB2 mutated allele carrying the p.Val84Met (V84M) mutation... 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
rs104894409 dbSNP
Genome
hg19
Position
chr13:20,763,471-20,763,471
Variant Type
snv
Reference Allele
C
Alternative Allele
G
East Asian Chromosome Counts (ExAC)
8650
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)
121362
Allele Counts in All Race (ExAC)
8
Heterozygous Counts in All Race (ExAC)
8
Homozygous Counts in All Race (ExAC)
0
Allele Frequency in All Race (ExAC)
6.591849178490796E-5
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