chr13:20763677:T>G Detail (hg19) (GJB2)

Information

Genome

Assembly Position
hg19 chr13:20,763,677-20,763,677
hg38 chr13:20,189,538-20,189,538 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_004004.5:c.44A>C NP_003995.2:p.Lys15Thr
Ensemble ENST00000382844.2:c.44A>C ENST00000382844.2:p.Lys15Thr
ENST00000382848.5:c.44A>C ENST00000382848.5:p.Lys15Thr
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
Likely pathogenic 2017-05-09 criteria provided, multiple submitters, no conflicts Autosomal recessive nonsyndromic hearing loss 1A germline unknown Detail
Pathogenic 2020-10-14 criteria provided, single submitter Rare genetic deafness germline Detail
Pathogenic Likely pathogenic 2023-09-15 criteria provided, multiple submitters, no conflicts not provided germline Detail
Pathogenic 2021-12-14 criteria provided, single submitter Autosomal recessive nonsyndromic hearing loss 1A,Mutilating keratoderma,Ichthyosis, hystrix-like, with hearing loss,X-linked mixed hearing loss with perilymphatic gusher,palmoplantar keratoderma-deafness syndrome,Autosomal dominant nonsyndromic hearing loss 3A,Knuckle pads, deafness AND leukonychia syndrome,Autosomal dominant keratitis-ichthyosis-hearing loss syndrome unknown Detail
Pathogenic 2021-12-14 criteria provided, single submitter Autosomal recessive nonsyndromic hearing loss 1A,Mutilating keratoderma,Ichthyosis, hystrix-like, with hearing loss,X-linked mixed hearing loss with perilymphatic gusher,palmoplantar keratoderma-deafness syndrome,Autosomal dominant nonsyndromic hearing loss 3A,Knuckle pads, deafness AND leukonychia syndrome,Autosomal dominant keratitis-ichthyosis-hearing loss syndrome unknown Detail
Pathogenic 2021-12-14 criteria provided, single submitter Autosomal recessive nonsyndromic hearing loss 1A,Mutilating keratoderma,Ichthyosis, hystrix-like, with hearing loss,X-linked mixed hearing loss with perilymphatic gusher,palmoplantar keratoderma-deafness syndrome,Autosomal dominant nonsyndromic hearing loss 3A,Knuckle pads, deafness AND leukonychia syndrome,Autosomal dominant keratitis-ichthyosis-hearing loss syndrome unknown Detail
Pathogenic 2021-12-14 criteria provided, single submitter Autosomal recessive nonsyndromic hearing loss 1A,Mutilating keratoderma,Ichthyosis, hystrix-like, with hearing loss,X-linked mixed hearing loss with perilymphatic gusher,palmoplantar keratoderma-deafness syndrome,Autosomal dominant nonsyndromic hearing loss 3A,Knuckle pads, deafness AND leukonychia syndrome,Autosomal dominant keratitis-ichthyosis-hearing loss syndrome unknown Detail
Pathogenic 2021-12-14 criteria provided, single submitter Autosomal recessive nonsyndromic hearing loss 1A,Mutilating keratoderma,Ichthyosis, hystrix-like, with hearing loss,X-linked mixed hearing loss with perilymphatic gusher,palmoplantar keratoderma-deafness syndrome,Autosomal dominant nonsyndromic hearing loss 3A,Knuckle pads, deafness AND leukonychia syndrome,Autosomal dominant keratitis-ichthyosis-hearing loss syndrome unknown Detail
Pathogenic 2021-12-14 criteria provided, single submitter Autosomal recessive nonsyndromic hearing loss 1A,Mutilating keratoderma,Ichthyosis, hystrix-like, with hearing loss,X-linked mixed hearing loss with perilymphatic gusher,palmoplantar keratoderma-deafness syndrome,Autosomal dominant nonsyndromic hearing loss 3A,Knuckle pads, deafness AND leukonychia syndrome,Autosomal dominant keratitis-ichthyosis-hearing loss syndrome unknown Detail
Pathogenic 2021-12-14 criteria provided, single submitter Autosomal recessive nonsyndromic hearing loss 1A,Mutilating keratoderma,Ichthyosis, hystrix-like, with hearing loss,X-linked mixed hearing loss with perilymphatic gusher,palmoplantar keratoderma-deafness syndrome,Autosomal dominant nonsyndromic hearing loss 3A,Knuckle pads, deafness AND leukonychia syndrome,Autosomal dominant keratitis-ichthyosis-hearing loss syndrome unknown Detail
Pathogenic 2021-12-14 criteria provided, single submitter Autosomal recessive nonsyndromic hearing loss 1A,Mutilating keratoderma,Ichthyosis, hystrix-like, with hearing loss,X-linked mixed hearing loss with perilymphatic gusher,palmoplantar keratoderma-deafness syndrome,Autosomal dominant nonsyndromic hearing loss 3A,Knuckle pads, deafness AND leukonychia syndrome,Autosomal dominant keratitis-ichthyosis-hearing loss syndrome unknown 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.44A>C (p.Lys15Thr) AND Autosomal recessive nonsyndromic hearing loss 1A ClinVar Detail
NM_004004.6(GJB2):c.44A>C (p.Lys15Thr) AND Rare genetic deafness ClinVar Detail
NM_004004.6(GJB2):c.44A>C (p.Lys15Thr) AND not provided ClinVar Detail
NM_004004.6(GJB2):c.44A>C (p.Lys15Thr) AND multiple conditions ClinVar Detail
NM_004004.6(GJB2):c.44A>C (p.Lys15Thr) AND multiple conditions ClinVar Detail
NM_004004.6(GJB2):c.44A>C (p.Lys15Thr) AND multiple conditions ClinVar Detail
NM_004004.6(GJB2):c.44A>C (p.Lys15Thr) AND multiple conditions ClinVar Detail
NM_004004.6(GJB2):c.44A>C (p.Lys15Thr) AND multiple conditions ClinVar Detail
NM_004004.6(GJB2):c.44A>C (p.Lys15Thr) AND multiple conditions ClinVar Detail
NM_004004.6(GJB2):c.44A>C (p.Lys15Thr) AND multiple conditions ClinVar Detail
NM_004004.6(GJB2):c.44A>C (p.Lys15Thr) AND multiple conditions 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
rs111033217 dbSNP
Genome
hg19
Position
chr13:20,763,677-20,763,677
Variant Type
snv
Reference Allele
T
Alternative Allele
G
Genome browser