chr13:20223053:C>T Detail (hg38) (GJB6)

Information

Genome

Assembly Position
hg19 chr13:20,797,192-20,797,192 View the variant detail on this assembly version.
hg38 chr13:20,223,053-20,223,053

HGVS

Type Transcript Protein
RefSeq NM_006783.4:c.428G>A NP_006774.2:p.Arg143Gln
NM_001110221.2:c.428G>A NP_001103691.1:p.Arg143Gln
NM_001110220.2:c.428G>A NP_001103690.1:p.Arg143Gln
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 Uncertain significance
Review star
Show details
Links
Type Database ID Link
Gene MIM 604418 OMIM
HGNC 4288 HGNC
Ensembl ENSG00000121742 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv47911822 TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Uncertain significance 2021-09-16 criteria provided, single submitter Autosomal dominant nonsyndromic hearing loss 3B,Autosomal recessive nonsyndromic hearing loss 1A,Autosomal recessive nonsyndromic hearing loss 1B,Hidrotic ectodermal dysplasia syndrome germline Detail
Uncertain significance 2021-09-16 criteria provided, single submitter Autosomal dominant nonsyndromic hearing loss 3B,Autosomal recessive nonsyndromic hearing loss 1A,Autosomal recessive nonsyndromic hearing loss 1B,Hidrotic ectodermal dysplasia syndrome germline Detail
Uncertain significance 2021-09-16 criteria provided, single submitter Autosomal dominant nonsyndromic hearing loss 3B,Autosomal recessive nonsyndromic hearing loss 1A,Autosomal recessive nonsyndromic hearing loss 1B,Hidrotic ectodermal dysplasia syndrome germline Detail
Uncertain significance 2021-09-16 criteria provided, single submitter Autosomal dominant nonsyndromic hearing loss 3B,Autosomal recessive nonsyndromic hearing loss 1A,Autosomal recessive nonsyndromic hearing loss 1B,Hidrotic ectodermal dysplasia syndrome germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.133 palmoplantar keratosis HeLa cells stably expressing nine dominant Cx26 mutants, six associated with non... BeFree 20096356 Detail
<0.001 palmoplantar keratosis HeLa cells stably expressing nine dominant Cx26 mutants, six associated with non... BeFree 20096356 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_001110219.3(GJB6):c.428G>A (p.Arg143Gln) AND multiple conditions ClinVar Detail
NM_001110219.3(GJB6):c.428G>A (p.Arg143Gln) AND multiple conditions ClinVar Detail
NM_001110219.3(GJB6):c.428G>A (p.Arg143Gln) AND multiple conditions ClinVar Detail
NM_001110219.3(GJB6):c.428G>A (p.Arg143Gln) AND multiple conditions ClinVar Detail
HeLa cells stably expressing nine dominant Cx26 mutants, six associated with non-syndromic hearing l... DisGeNET Detail
HeLa cells stably expressing nine dominant Cx26 mutants, six associated with non-syndromic hearing l... 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
rs201783640 dbSNP
Genome
hg38
Position
chr13:20,223,053-20,223,053
Variant Type
snv
Reference Allele
C
Alternative Allele
T
East Asian Chromosome Counts (ExAC)
8654
East Asian Allele Counts (ExAC)
1
East Asian Heterozygous Counts (ExAC)
1
East Asian Homozygous Counts (ExAC)
0
East Asian Allele Frequency (ExAC)
1.1555350127108852E-4
Chromosome Counts in All Race (ExAC)
121350
Allele Counts in All Race (ExAC)
1
Heterozygous Counts in All Race (ExAC)
1
Homozygous Counts in All Race (ExAC)
0
Allele Frequency in All Race (ExAC)
8.240626287597857E-6
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