chr11:2583545:G>A 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	chr11:2,604,775-2,604,775 View the variant detail on this assembly version.
hg38	chr11:2,583,545-2,583,545

HGVS

KCNQ1

Type	Transcript	Protein
RefSeq	NM_000218.2:c.1032G>A	NP_000209.2:p.Ala344=
	NM_181798.1:c.651G>A	NP_861463.1:p.Ala217=
Ensemble	ENST00000155840.12:c.1032G>A	ENST00000155840.12:p.Ala344=
	ENST00000335475.6:c.651G>A	ENST00000335475.6:p.Ala217=
	ENST00000496887.7:c.771G>A	ENST00000496887.7:p.Ala257=
	ENST00000646564.2:c.588G>A	ENST00000646564.2:p.Ala196=
	ENST00000713725.1:c.891G>A	ENST00000713725.1:p.Ala297=

Summary

MGeND

Clinical significance	Likely pathogenic Pathogenic
Variant entry	2
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 (TMGS000178)	Kenjiro Kosaki	Keio University

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Pathogenic	2024-01-12	criteria provided, multiple submitters, no conflicts	long QT syndrome 1	germline unknown	Detail
Pathogenic	2024-01-31	criteria provided, multiple submitters, no conflicts	long QT syndrome	germline	Detail
Pathogenic	2023-09-06	criteria provided, multiple submitters, no conflicts	not provided	germline	Detail
Pathogenic	2017-02-09	criteria provided, single submitter	long QT syndrome 2	germline	Detail
Pathogenic	2019-04-30	criteria provided, single submitter		germline	Detail
Pathogenic	2022-05-04	criteria provided, single submitter	Beckwith-Wiedemann syndrome	germline	Detail
Pathogenic	2018-07-16	criteria provided, single submitter	Congenital long QT syndrome	germline	Detail

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
0.417	long QT syndrome	NA	CLINVAR		Detail
0.573	Romano-Ward Syndrome	NA	CLINVAR		Detail

Annotation

Annotations

Descrption	Source	Links
NM_000218.3(KCNQ1):c.1032G>A (p.Ala344=) AND Long QT syndrome 1	ClinVar	Detail
NM_000218.3(KCNQ1):c.1032G>A (p.Ala344=) AND Long QT syndrome	ClinVar	Detail
NM_000218.3(KCNQ1):c.1032G>A (p.Ala344=) AND not provided	ClinVar	Detail
NM_000218.3(KCNQ1):c.1032G>A (p.Ala344=) AND Long QT syndrome 2	ClinVar	Detail
NM_000218.3(KCNQ1):c.1032G>A (p.Ala344=) AND Cardiovascular phenotype	ClinVar	Detail
NM_000218.3(KCNQ1):c.1032G>A (p.Ala344=) AND Beckwith-Wiedemann syndrome	ClinVar	Detail
NM_000218.3(KCNQ1):c.1032G>A (p.Ala344=) AND Congenital long QT syndrome	ClinVar	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: rs1800171 dbSNP
Genome: hg38
Position: chr11:2,583,545-2,583,545
Variant Type: snv
Reference Allele: G
Alternative Allele: A

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