chr11:2528011:T>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	chr11:2,549,241-2,549,241 View the variant detail on this assembly version.
hg38	chr11:2,528,011-2,528,011

HGVS

KCNQ1

Type	Transcript	Protein
RefSeq	NM_000218.2:c.470T>G	NP_000209.2:p.Phe157Cys
	NM_181798.1:c.89T>G	NP_861463.1:p.Phe30Cys
Ensemble	ENST00000155840.12:c.470T>G	ENST00000155840.12:p.Phe157Cys
	ENST00000335475.6:c.89T>G	ENST00000335475.6:p.Phe30Cys
	ENST00000496887.7:c.209T>G	ENST00000496887.7:p.Phe70Cys
	ENST00000646564.2:c.470T>G	ENST00000646564.2:p.Phe157Cys
	ENST00000713725.1:c.470T>G	ENST00000713725.1:p.Phe157Cys

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

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

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
not provided		no assertion provided	Congenital long QT syndrome	germline	Detail
Uncertain significance	2022-03-12	criteria provided, single submitter	long QT syndrome	germline	Detail

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
0.417	long QT syndrome	The sensitivity of the method was 100% when 34 different point mutations were an...	BeFree	10220146	Detail
0.388	long QT syndrome	The sensitivity of the method was 100% when 34 different point mutations were an...	BeFree	10220146	Detail
<0.001	long QT syndrome	The sensitivity of the method was 100% when 34 different point mutations were an...	BeFree	10220146	Detail
0.133	Congenital long QT syndrome	NA	CLINVAR		Detail

Annotation

Annotations

Descrption	Source	Links
NM_000218.3(KCNQ1):c.470T>G (p.Phe157Cys) AND Congenital long QT syndrome	ClinVar	Detail
NM_000218.3(KCNQ1):c.470T>G (p.Phe157Cys) AND Long QT syndrome	ClinVar	Detail
The sensitivity of the method was 100% when 34 different point mutations were analyzed, including tw...	DisGeNET	Detail
The sensitivity of the method was 100% when 34 different point mutations were analyzed, including tw...	DisGeNET	Detail
The sensitivity of the method was 100% when 34 different point mutations were analyzed, including tw...	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: -
dbSNP: rs199472690 dbSNP
Genome: hg38
Position: chr11:2,528,011-2,528,011
Variant Type: snv
Reference Allele: T
Alternative Allele: G

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