chr13:20763091:CA> Detail (hg19) (GJB2)

Information

Genome

Assembly Position
hg19 chr13:20,763,091-20,763,092
hg38 chr13:20,188,952-20,188,953 

HGVS

Type Transcript Protein
RefSeq NM_004004.5:c.629_630delTG NP_003995.2:p.Cys211LeufsTer5
Ensemble ENST00000382844.2:c.629_630delTG ENST00000382844.2:p.Cys211LeufsTer5
ENST00000382848.5:c.629_630delTG ENST00000382848.5:p.Cys211LeufsTer5
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance
Review star [No Data.]
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
[No Data.]
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.440 DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder) NA CLINVAR Detail
Annotation

Annotations

DescrptionSourceLinks
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
rs587783646 dbSNP
Genome
hg19
Position
chr13:20,763,091-20,763,092
Variant Type
snv
Reference Allele
CA
Alternative Allele
-
Genome browser