chr13:20188934:TCTA> Detail (hg38) (GJB2)

Information

Genome

Assembly Position
hg19 chr13:20,763,073-20,763,076 
hg38 chr13:20,188,934-20,188,937

HGVS

Type Transcript Protein
RefSeq NM_004004.5:c.645_648delTAGA NP_003995.2:p.Arg216IlefsTer17
Ensemble ENST00000382844.2:c.645_648delTAGA ENST00000382844.2:p.Arg216IlefsTer17
ENST00000382848.5:c.645_648delTAGA ENST00000382848.5:p.Arg216IlefsTer17
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 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 2013-02-08 criteria provided, single submitter germline Detail
Pathogenic 2023-11-20 criteria provided, multiple submitters, no conflicts not provided germline Detail
Pathogenic Likely pathogenic 2017-05-09 criteria provided, multiple submitters, no conflicts Autosomal recessive nonsyndromic hearing loss 1A germline unknown Detail
Pathogenic 2021-08-05 criteria provided, single submitter Rare genetic deafness germline Detail
Likely pathogenic 2016-06-21 criteria provided, single submitter Autosomal dominant nonsyndromic hearing loss 3A unknown Detail
Likely pathogenic 2018-08-23 criteria provided, single submitter Inborn genetic diseases germline Detail
Pathogenic 2024-01-09 criteria provided, single submitter Autosomal recessive nonsyndromic hearing loss 1A 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.647_650del (p.Arg216fs) AND Hearing impairment ClinVar Detail
NM_004004.6(GJB2):c.647_650del (p.Arg216fs) AND not provided ClinVar Detail
NM_004004.6(GJB2):c.647_650del (p.Arg216fs) AND Autosomal recessive nonsyndromic hearing loss 1A ClinVar Detail
NM_004004.6(GJB2):c.647_650del (p.Arg216fs) AND Rare genetic deafness ClinVar Detail
NM_004004.6(GJB2):c.647_650del (p.Arg216fs) AND Autosomal dominant nonsyndromic hearing loss 3A ClinVar Detail
NM_004004.6(GJB2):c.647_650del (p.Arg216fs) AND Inborn genetic diseases ClinVar Detail
NM_004004.6(GJB2):c.647_650del (p.Arg216fs) AND Autosomal recessive nonsyndromic hearing loss 1A 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
rs587783647 dbSNP
Genome
hg38
Position
chr13:20,188,934-20,188,937
Variant Type
snv
Reference Allele
TCTA
Alternative Allele
-
East Asian Chromosome Counts (ExAC)
8550
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)
116988
Allele Counts in All Race (ExAC)
3
Heterozygous Counts in All Race (ExAC)
3
Homozygous Counts in All Race (ExAC)
0
Allele Frequency in All Race (ExAC)
2.5643655759565083E-5
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