chrX:71224363:G>A Detail (hg38) (GJB1)

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

Genome

Assembly	Position
hg19	chrX:70,444,213-70,444,213 View the variant detail on this assembly version.
hg38	chrX:71,224,363-71,224,363

HGVS

GJB1

Type	Transcript	Protein
RefSeq	NM_000166.5:c.656G>A	NP_000157.1:p.Arg219His
Ensemble	ENST00000361726.7:c.656G>A	ENST00000361726.7:p.Arg219His
	ENST00000374029.2:c.656G>A	ENST00000374029.2:p.Arg219His
	ENST00000447581.2:c.656G>A	ENST00000447581.2:p.Arg219His
	ENST00000645009.2:c.656G>A	ENST00000645009.2:p.Arg219His
	ENST00000646835.1:c.656G>A	ENST00000646835.1:p.Arg219His
	ENST00000647424.1:c.656G>A	ENST00000647424.1:p.Arg219His
	ENST00000674549.1:c.656G>A	ENST00000674549.1:p.Arg219His
	ENST00000674844.1:c.656G>A	ENST00000674844.1:p.Arg219His
	ENST00000675209.1:c.656G>A	ENST00000675209.1:p.Arg219His
	ENST00000675368.1:c.656G>A	ENST00000675368.1:p.Arg219His
	ENST00000675609.1:c.656G>A	ENST00000675609.1:p.Arg219His

Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics	Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance	Uncertain significance
Review star
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Links

GJB1

Type	Database	ID	Link
Gene	MIM	304040	OMIM
	HGNC	4283	HGNC
	Ensembl	ENSG00000169562	Ensembl
	NCBI		NCBI
	Gene Cards		Gene Cards
	OncoKB		OncoKB

Type	Database	ID	Link
Variant	TogoVar	tgv414835937	TogoVar
	COSMIC
	MONDO

Disease area statistics

[No Data.]

MGeND

[No Data.]

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Uncertain significance	2021-09-02	criteria provided, single submitter	Charcot-Marie-Tooth Neuropathy X	germline	Detail
Uncertain significance	2020-09-16	no assertion criteria provided	Charcot-Marie-Tooth disease	germline	Detail

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
0.573	Charcot-Marie-Tooth disease, X-linked, 1	We compared the localization of CMTX mutants that affect different domains of Cx...	UNIPROT	12460545	Detail

Annotation

Annotations

Descrption	Source	Links
NM_000166.6(GJB1):c.656G>A (p.Arg219His) AND Charcot-Marie-Tooth Neuropathy X	ClinVar	Detail
NM_000166.6(GJB1):c.656G>A (p.Arg219His) AND Charcot-Marie-Tooth disease	ClinVar	Detail
We compared the localization of CMTX mutants that affect different domains of Cx32, by expressing th...	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: rs199834862 dbSNP
Genome: hg38
Position: chrX:71,224,363-71,224,363
Variant Type: snv
Reference Allele: G
Alternative Allele: A

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