chr13:20189256:CCCTTGATGAACTTCC> Detail (hg38) (GJB2)

Information

Genome

Assembly Position
hg19 chr13:20,763,395-20,763,410 
hg38 chr13:20,189,256-20,189,271

HGVS

Type Transcript Protein
RefSeq NM_004004.5:c.311_326delGGAAGTTCATCAAGGG NP_003995.2:p.Lys105ArgfsTer2
Ensemble ENST00000382844.2:c.311_326delGGAAGTTCATCAAGGG ENST00000382844.2:p.Lys105ArgfsTer2
ENST00000382848.5:c.311_326delGGAAGTTCATCAAGGG ENST00000382848.5:p.Lys105ArgfsTer2
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance 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
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.314_329del (p.Lys105fs) 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
rs797045596 dbSNP
Genome
hg38
Position
chr13:20,189,256-20,189,271
Variant Type
snv
Reference Allele
CCCTTGATGAACTTCC
Alternative Allele
-
Genome browser