chr13:20189532:G>C Detail (hg38) (GJB2)

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Summary
Information
Links
Disease area statistics
MGeND
ClinVar
CIViC
DisGeNET
Annotation
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Information

Genome

Assembly	Position
hg19	chr13:20,763,671-20,763,671 View the variant detail on this assembly version.
hg38	chr13:20,189,532-20,189,532

HGVS

GJB2

Type	Transcript	Protein
RefSeq	NM_004004.5:c.50C>G	NP_003995.2:p.Ser17Cys
Ensemble	ENST00000382844.2:c.50C>G	ENST00000382844.2:p.Ser17Cys
	ENST00000382848.5:c.50C>G	ENST00000382848.5:p.Ser17Cys

Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics	Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance	Uncertain significance
Review star
Show details

Links

GJB2

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
Uncertain significance	2014-06-30	criteria provided, single submitter	not specified	germline	Detail

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
0.328	Senter syndrome	Missense mutations in GJB2 encoding connexin-26 cause the ectodermal dysplasia k...	UNIPROT	11912510	Detail

Annotation

Annotations

Descrption	Source	Links
NM_004004.6(GJB2):c.50C>G (p.Ser17Cys) AND not specified	ClinVar	Detail
Missense mutations in GJB2 encoding connexin-26 cause the ectodermal dysplasia keratitis-ichthyosis-...	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: rs28929485 dbSNP
Genome: hg38
Position: chr13:20,189,532-20,189,532
Variant Type: snv
Reference Allele: G
Alternative Allele: C

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