chr11:2594119:T>C Detail (hg19) (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	chr11:2,594,119-2,594,119
hg38	chr11:2,572,889-2,572,889 View the variant detail on this assembly version.

HGVS

KCNQ1

Type	Transcript	Protein
RefSeq	NM_000218.2:c.824T>C	NP_000209.2:p.Phe275Ser
	NM_181798.1:c.443T>C	NP_861463.1:p.Phe148Ser
Ensemble	ENST00000496887.7:c.563T>C	ENST00000496887.7:p.Phe188Ser
	ENST00000155840.12:c.824T>C	ENST00000155840.12:p.Phe275Ser
	ENST00000713725.1:c.780+780T>C
	ENST00000335475.6:c.443T>C	ENST00000335475.6:p.Phe148Ser
	ENST00000646564.2:c.478-10546T>C

Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics	Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance	not provided
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

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
0.417	long QT syndrome	We previously identified a missense mutation F275S located within the S5 transme...	BeFree	19167356	Detail
0.006	cardiac event	Excitement, exercises, and stress appear to be the triggers for developing cardi...	BeFree	12442276	Detail
0.007	cardiac event	Excitement, exercises, and stress appear to be the triggers for developing cardi...	BeFree	12442276	Detail
0.133	Congenital long QT syndrome	NA	CLINVAR		Detail

Annotation

Annotations

Descrption	Source	Links
NM_000218.3(KCNQ1):c.824T>C (p.Phe275Ser) AND Congenital long QT syndrome	ClinVar	Detail
We previously identified a missense mutation F275S located within the S5 transmembrane domain of the...	DisGeNET	Detail
Excitement, exercises, and stress appear to be the triggers for developing cardiac events (syncope, ...	DisGeNET	Detail
Excitement, exercises, and stress appear to be the triggers for developing cardiac events (syncope, ...	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: rs199472729 dbSNP
Genome: hg19
Position: chr11:2,594,119-2,594,119
Variant Type: snv
Reference Allele: T
Alternative Allele: C

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