chr13:20189563:G>A Detail (hg38) (GJB2)

Information

Genome

Assembly Position
hg19 chr13:20,763,702-20,763,702 View the variant detail on this assembly version.
hg38 chr13:20,189,563-20,189,563

HGVS

Type Transcript Protein
RefSeq NM_004004.5:c.19C>T NP_003995.2:p.Gln7Ter
Ensemble ENST00000382844.2:c.19C>T ENST00000382844.2:p.Gln7Ter
ENST00000382848.5:c.19C>T ENST00000382848.5:p.Gln7Ter
Summary

MGeND

Clinical significance Pathogenic
Variant entry 1
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
MGeND
Clinical significance Last evaluated Condition Origin Submission ID Submitter Institute Citation Comment Image
Pathogenic deafness, autosomal recessive germline MGS000001
(TMGS000137) 		Kenjiro Kosaki Keio University
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Pathogenic Likely pathogenic 2016-02-11 criteria provided, multiple submitters, no conflicts Autosomal recessive nonsyndromic hearing loss 1A germline unknown Detail
Likely pathogenic 2009-09-18 criteria provided, single submitter Rare genetic deafness germline Detail
Pathogenic 2017-10-02 criteria provided, single submitter Inborn genetic diseases germline Detail
Pathogenic Likely pathogenic 2023-12-02 criteria provided, multiple submitters, no conflicts not provided 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.19C>T (p.Gln7Ter) AND Autosomal recessive nonsyndromic hearing loss 1A ClinVar Detail
NM_004004.6(GJB2):c.19C>T (p.Gln7Ter) AND Rare genetic deafness ClinVar Detail
NM_004004.6(GJB2):c.19C>T (p.Gln7Ter) AND Inborn genetic diseases ClinVar Detail
NM_004004.6(GJB2):c.19C>T (p.Gln7Ter) AND not provided 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
rs111033451 dbSNP
Genome
hg38
Position
chr13:20,189,563-20,189,563
Variant Type
snv
Reference Allele
G
Alternative Allele
A
Genome browser