chr13:20766921:C>T Detail (hg19) (GJB2)

Information

Genome

Assembly Position
hg19 chr13:20,766,921-20,766,921
hg38 chr13:20,192,782-20,192,782 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_004004.5:c.-23+1G>A
Ensemble ENST00000382848.5:c.-23+1G>A
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

[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
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Pathogenic Likely pathogenic 2024-03-26 criteria provided, multiple submitters, no conflicts Autosomal recessive nonsyndromic hearing loss 1A germline inherited not provided unknown Detail
Pathogenic 2021-04-12 criteria provided, multiple submitters, no conflicts germline Detail
Pathogenic 2022-06-30 criteria provided, single submitter Rare genetic deafness germline Detail
Pathogenic 2024-01-31 criteria provided, multiple submitters, no conflicts not provided germline unknown Detail
Pathogenic 2017-08-14 no assertion criteria provided germline Detail
Pathogenic 2021-07-06 criteria provided, single submitter Knuckle pads, deafness AND leukonychia syndrome,Autosomal recessive nonsyndromic hearing loss 1A,Mutilating keratoderma,Autosomal dominant keratitis-ichthyosis-hearing loss syndrome,X-linked mixed hearing loss with perilymphatic gusher,Autosomal dominant nonsyndromic hearing loss 3A,Ichthyosis, hystrix-like, with hearing loss,palmoplantar keratoderma-deafness syndrome unknown Detail
Pathogenic 2021-07-06 criteria provided, single submitter Knuckle pads, deafness AND leukonychia syndrome,Autosomal recessive nonsyndromic hearing loss 1A,Mutilating keratoderma,Autosomal dominant keratitis-ichthyosis-hearing loss syndrome,X-linked mixed hearing loss with perilymphatic gusher,Autosomal dominant nonsyndromic hearing loss 3A,Ichthyosis, hystrix-like, with hearing loss,palmoplantar keratoderma-deafness syndrome unknown Detail
Pathogenic 2021-07-06 criteria provided, single submitter Knuckle pads, deafness AND leukonychia syndrome,Autosomal recessive nonsyndromic hearing loss 1A,Mutilating keratoderma,Autosomal dominant keratitis-ichthyosis-hearing loss syndrome,X-linked mixed hearing loss with perilymphatic gusher,Autosomal dominant nonsyndromic hearing loss 3A,Ichthyosis, hystrix-like, with hearing loss,palmoplantar keratoderma-deafness syndrome unknown Detail
Pathogenic 2021-07-06 criteria provided, single submitter Knuckle pads, deafness AND leukonychia syndrome,Autosomal recessive nonsyndromic hearing loss 1A,Mutilating keratoderma,Autosomal dominant keratitis-ichthyosis-hearing loss syndrome,X-linked mixed hearing loss with perilymphatic gusher,Autosomal dominant nonsyndromic hearing loss 3A,Ichthyosis, hystrix-like, with hearing loss,palmoplantar keratoderma-deafness syndrome unknown Detail
Pathogenic 2021-07-06 criteria provided, single submitter Knuckle pads, deafness AND leukonychia syndrome,Autosomal recessive nonsyndromic hearing loss 1A,Mutilating keratoderma,Autosomal dominant keratitis-ichthyosis-hearing loss syndrome,X-linked mixed hearing loss with perilymphatic gusher,Autosomal dominant nonsyndromic hearing loss 3A,Ichthyosis, hystrix-like, with hearing loss,palmoplantar keratoderma-deafness syndrome unknown Detail
Pathogenic 2021-07-06 criteria provided, single submitter Knuckle pads, deafness AND leukonychia syndrome,Autosomal recessive nonsyndromic hearing loss 1A,Mutilating keratoderma,Autosomal dominant keratitis-ichthyosis-hearing loss syndrome,X-linked mixed hearing loss with perilymphatic gusher,Autosomal dominant nonsyndromic hearing loss 3A,Ichthyosis, hystrix-like, with hearing loss,palmoplantar keratoderma-deafness syndrome unknown Detail
Pathogenic 2021-07-06 criteria provided, single submitter Knuckle pads, deafness AND leukonychia syndrome,Autosomal recessive nonsyndromic hearing loss 1A,Mutilating keratoderma,Autosomal dominant keratitis-ichthyosis-hearing loss syndrome,X-linked mixed hearing loss with perilymphatic gusher,Autosomal dominant nonsyndromic hearing loss 3A,Ichthyosis, hystrix-like, with hearing loss,palmoplantar keratoderma-deafness syndrome unknown Detail
Pathogenic 2021-07-06 criteria provided, single submitter Knuckle pads, deafness AND leukonychia syndrome,Autosomal recessive nonsyndromic hearing loss 1A,Mutilating keratoderma,Autosomal dominant keratitis-ichthyosis-hearing loss syndrome,X-linked mixed hearing loss with perilymphatic gusher,Autosomal dominant nonsyndromic hearing loss 3A,Ichthyosis, hystrix-like, with hearing loss,palmoplantar keratoderma-deafness syndrome unknown 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 2020-08-21 criteria provided, single submitter Nonsyndromic genetic hearing loss germline Detail
Likely pathogenic no assertion criteria provided Hearing loss, autosomal recessive inherited Detail
Pathogenic 2021-07-10 criteria provided, single submitter Ear malformation germline Detail
Pathogenic Likely pathogenic 2023-04-28 criteria provided, multiple submitters, no conflicts Autosomal recessive nonsyndromic hearing loss 1A germline Detail
Pathogenic 2022-03-23 criteria provided, multiple submitters, no conflicts Autosomal dominant nonsyndromic hearing loss 3A germline unknown Detail
Pathogenic criteria provided, single submitter Autosomal recessive nonsyndromic hearing loss 104 germline Detail
Pathogenic 2024-02-14 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
Annotation

Annotations

DescrptionSourceLinks
NM_004004.6(GJB2):c.-23+1G>A AND Autosomal recessive nonsyndromic hearing loss 1A ClinVar Detail
NM_004004.6(GJB2):c.-23+1G>A AND Hearing impairment ClinVar Detail
NM_004004.6(GJB2):c.-23+1G>A AND Rare genetic deafness ClinVar Detail
NM_004004.6(GJB2):c.-23+1G>A AND not provided ClinVar Detail
NM_004004.6(GJB2):c.-23+1G>A AND Hearing loss ClinVar Detail
NM_004004.6(GJB2):c.-23+1G>A AND multiple conditions ClinVar Detail
NM_004004.6(GJB2):c.-23+1G>A AND multiple conditions ClinVar Detail
NM_004004.6(GJB2):c.-23+1G>A AND multiple conditions ClinVar Detail
NM_004004.6(GJB2):c.-23+1G>A AND multiple conditions ClinVar Detail
NM_004004.6(GJB2):c.-23+1G>A AND multiple conditions ClinVar Detail
NM_004004.6(GJB2):c.-23+1G>A AND multiple conditions ClinVar Detail
NM_004004.6(GJB2):c.-23+1G>A AND multiple conditions ClinVar Detail
NM_004004.6(GJB2):c.-23+1G>A AND multiple conditions ClinVar Detail
NM_004004.6(GJB2):c.-23+1G>A AND multiple conditions ClinVar Detail
NM_004004.6(GJB2):c.-23+1G>A AND multiple conditions ClinVar Detail
NM_004004.6(GJB2):c.-23+1G>A AND Nonsyndromic genetic hearing loss ClinVar Detail
NM_004004.6(GJB2):c.-23+1G>A AND Hearing loss, autosomal recessive ClinVar Detail
NM_004004.6(GJB2):c.-23+1G>A AND Ear malformation ClinVar Detail
NM_004004.6(GJB2):c.-23+1G>A AND Autosomal recessive nonsyndromic hearing loss 1A ClinVar Detail
NM_004004.6(GJB2):c.-23+1G>A AND Autosomal dominant nonsyndromic hearing loss 3A ClinVar Detail
NM_004004.6(GJB2):c.-23+1G>A AND Autosomal recessive nonsyndromic hearing loss 104 ClinVar Detail
NM_004004.6(GJB2):c.-23+1G>A AND GJB2-related disorder ClinVar Detail
NA DisGeNET Detail

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs80338940 dbSNP
Genome
hg19
Position
chr13:20,766,921-20,766,921
Variant Type
snv
Reference Allele
C
Alternative Allele
T
Genome browser