chr13:20763121:TCCAGACAC>GAATGTCATGAACACTG Detail (hg19) (GJB2)

Information

Genome

Assembly Position
hg19 chr13:20,763,121-20,763,129
hg38 chr13:20,188,982-20,188,990 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_004004.5:c.592_600delinsCAGTGTTCATGACATTC NP_003995.2:p.Val198GlnfsTer4
Ensemble ENST00000382844.2:c.592_600delinsCAGTGTTCATGACATTC ENST00000382844.2:p.Val198GlnfsTer4
ENST00000382848.5:c.592_600delinsCAGTGTTCATGACATTC ENST00000382848.5:p.Val198GlnfsTer4
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 2013-02-08 criteria provided, single submitter Autosomal recessive nonsyndromic hearing loss 1A germline Detail
Pathogenic 2015-04-27 criteria provided, single submitter Rare genetic deafness germline Detail
Pathogenic 2010-03-31 no assertion criteria provided germline Detail
Pathogenic 2023-09-08 criteria provided, multiple submitters, no conflicts not provided germline Detail
Likely pathogenic 2022-06-16 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.592_600delinsCAGTGTTCATGACATTC (p.Val198_Gly200delinsGlnCysSerTer) AND Autosomal... ClinVar Detail
NM_004004.6(GJB2):c.592_600delinsCAGTGTTCATGACATTC (p.Val198_Gly200delinsGlnCysSerTer) AND Rare gene... ClinVar Detail
NM_004004.6(GJB2):c.592_600delinsCAGTGTTCATGACATTC (p.Val198_Gly200delinsGlnCysSerTer) AND Hearing l... ClinVar Detail
NM_004004.6(GJB2):c.592_600delinsCAGTGTTCATGACATTC (p.Val198_Gly200delinsGlnCysSerTer) AND not provi... ClinVar Detail
NM_004004.6(GJB2):c.592_600delinsCAGTGTTCATGACATTC (p.Val198_Gly200delinsGlnCysSerTer) AND Autosomal... 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
rs111033335 dbSNP
Genome
hg19
Position
chr13:20,763,121-20,763,129
Variant Type
snv
Reference Allele
TCCAGACAC
Alternative Allele
GAATGTCATGAACACTG
Genome browser