chr11:2587630:C>G Detail (hg38) (KCNQ1)

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

Genome

Assembly	Position
hg19	chr11:2,608,860-2,608,860 View the variant detail on this assembly version.
hg38	chr11:2,587,630-2,587,630

HGVS

KCNQ1

Type	Transcript	Protein
RefSeq	NM_000218.2:c.1189C>G	NP_000209.2:p.Arg397Gly
	NM_181798.1:c.808C>G	NP_861463.1:p.Arg270Gly
Ensemble	ENST00000155840.12:c.1189C>G	ENST00000155840.12:p.Arg397Gly
	ENST00000335475.6:c.808C>G	ENST00000335475.6:p.Arg270Gly
	ENST00000496887.7:c.832C>G	ENST00000496887.7:p.Arg278Gly
	ENST00000646564.2:c.649C>G	ENST00000646564.2:p.Arg217Gly
	ENST00000713725.1:c.1048C>G	ENST00000713725.1:p.Arg350Gly

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
Review star	[No Data.]
Show details

Links

KCNQ1

Type	Database	ID	Link
Gene	MIM	607542	OMIM
	HGNC	6294	HGNC
	Ensembl	ENSG00000053918	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
0.417	long QT syndrome	NA	CLINVAR		Detail
0.417	long QT syndrome	Both KV7.1-A283T (16-week male) and KV7.1-R397W (16-week female) mutations were ...	BeFree	23571586	Detail
0.133	Congenital long QT syndrome	NA	CLINVAR		Detail
0.573	Romano-Ward Syndrome	NA	CLINVAR		Detail

Annotation

Annotations

Descrption	Source	Links
NA	DisGeNET	Detail
Both KV7.1-A283T (16-week male) and KV7.1-R397W (16-week female) mutations were associated with mark...	DisGeNET	Detail
NA	DisGeNET	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: -
Genome: hg38
Position: chr11:2,587,630-2,587,630
Variant Type: snv
Reference Allele: C
Alternative Allele: G
East Asian Chromosome Counts (ExAC): 8632
East Asian Allele Counts (ExAC): 0
East Asian Heterozygous Counts (ExAC): 0
East Asian Homozygous Counts (ExAC): 0
East Asian Allele Frequency (ExAC): 0.0
Chromosome Counts in All Race (ExAC): 121184
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): 8.251914444151043E-6

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