chr11:2604683:G>A 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	chr11:2,604,683-2,604,683
hg38	chr11:2,583,453-2,583,453 View the variant detail on this assembly version.

HGVS

KCNQ1

Type	Transcript	Protein
RefSeq	NM_181798.1:c.559G>A	NP_861463.1:p.Gly187Ser
	NM_000218.2:c.940G>A	NP_000209.2:p.Gly314Ser
Ensemble	ENST00000335475.6:c.559G>A	ENST00000335475.6:p.Gly187Ser
	ENST00000155840.12:c.940G>A	ENST00000155840.12:p.Gly314Ser
	ENST00000496887.7:c.679G>A	ENST00000496887.7:p.Gly227Ser
	ENST00000646564.2:c.496G>A	ENST00000646564.2:p.Gly166Ser
	ENST00000713725.1:c.799G>A	ENST00000713725.1:p.Gly267Ser

Summary

MGeND

Clinical significance	Likely pathogenic Pathogenic
Variant entry	3
GWAS entry
Disease area statistics	Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance	Pathogenic
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

MGeND

Clinical significance	Last evaluated	Condition	Origin	Submission ID	Submitter	Institute	Citation	Comment	Image
Likely pathogenic		long qt syndrome	germline	MGS000001 (TMGS000174)	Kenjiro Kosaki	Keio University
Pathogenic		long qt syndrome	germline	MGS000001 (TMGS000174)	Kenjiro Kosaki	Keio University

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Pathogenic	2024-01-03	criteria provided, multiple submitters, no conflicts	long QT syndrome 1	germline unknown	Detail
not provided		no assertion provided	Congenital long QT syndrome	germline	Detail
Pathogenic	2021-08-26	criteria provided, single submitter	not provided	germline	Detail
Pathogenic	2024-01-08	criteria provided, multiple submitters, no conflicts	long QT syndrome	de novo germline	Detail
Pathogenic	2018-06-08	criteria provided, single submitter		germline	Detail

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
0.280	long QT syndrome	G314S, co-expressed with WT KCNQ1 and KCNE1, suppressed I(ks) currents in a domi...	BeFree	19348785	Detail
0.417	long QT syndrome	G314S, co-expressed with WT KCNQ1 and KCNE1, suppressed I(ks) currents in a domi...	BeFree	19348785	Detail
0.133	Congenital long QT syndrome	NA	CLINVAR		Detail
0.573	Romano-Ward Syndrome	NA	CLINVAR		Detail

Annotation

Annotations

Descrption	Source	Links
NM_000218.3(KCNQ1):c.940G>A (p.Gly314Ser) AND Long QT syndrome 1	ClinVar	Detail
NM_000218.3(KCNQ1):c.940G>A (p.Gly314Ser) AND Congenital long QT syndrome	ClinVar	Detail
NM_000218.3(KCNQ1):c.940G>A (p.Gly314Ser) AND not provided	ClinVar	Detail
NM_000218.3(KCNQ1):c.940G>A (p.Gly314Ser) AND Long QT syndrome	ClinVar	Detail
NM_000218.3(KCNQ1):c.940G>A (p.Gly314Ser) AND Cardiovascular phenotype	ClinVar	Detail
G314S, co-expressed with WT KCNQ1 and KCNE1, suppressed I(ks) currents in a dominant-negative manner...	DisGeNET	Detail
G314S, co-expressed with WT KCNQ1 and KCNE1, suppressed I(ks) currents in a dominant-negative manner...	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: -
dbSNP: rs120074184 dbSNP
Genome: hg19
Position: chr11:2,604,683-2,604,683
Variant Type: snv
Reference Allele: G
Alternative Allele: A

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