chr11:2588804:C>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	chr11:2,610,034-2,610,034 View the variant detail on this assembly version.
hg38	chr11:2,588,804-2,588,804

HGVS

KCNQ1

Type	Transcript	Protein
RefSeq	NM_000218.2:c.1343C>A	NP_000209.2:p.Pro448Gln
	NM_181798.1:c.962C>A	NP_861463.1:p.Pro321Gln
Ensemble	ENST00000155840.12:c.1343C>A	ENST00000155840.12:p.Pro448Gln
	ENST00000335475.6:c.962C>A	ENST00000335475.6:p.Pro321Gln
	ENST00000496887.7:c.986C>A	ENST00000496887.7:p.Pro329Gln
	ENST00000646564.2:c.803C>A	ENST00000646564.2:p.Pro268Gln
	ENST00000713725.1:c.1202C>A	ENST00000713725.1:p.Pro401Gln

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	Conflicting classifications of pathogenicity
Review star
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	tgv273508208	TogoVar
	COSMIC
	MONDO

Disease area statistics

[No Data.]

MGeND

[No Data.]

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Conflicting interpretations of pathogenicity	2024-01-04	criteria provided, conflicting interpretations	long QT syndrome	germline	Detail
Uncertain significance	2018-06-15	criteria provided, single submitter		germline	Detail
Uncertain significance	2022-11-16	criteria provided, single submitter	Cardiac arrhythmia	germline	Detail

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
0.132	Congenital long QT syndrome	Given the inconsistencies between the genotype (LQT1) and clinical phenotype (LQ...	BeFree	15242738	Detail
0.133	Congenital long QT syndrome	Given the inconsistencies between the genotype (LQT1) and clinical phenotype (LQ...	BeFree	15242738	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.1343C>A (p.Pro448Gln) AND Long QT syndrome	ClinVar	Detail
NM_000218.3(KCNQ1):c.1343C>A (p.Pro448Gln) AND Cardiovascular phenotype	ClinVar	Detail
NM_000218.3(KCNQ1):c.1343C>A (p.Pro448Gln) AND Cardiac arrhythmia	ClinVar	Detail
Given the inconsistencies between the genotype (LQT1) and clinical phenotype (LQT2) in our two LQTS ...	DisGeNET	Detail
Given the inconsistencies between the genotype (LQT1) and clinical phenotype (LQT2) in our two LQTS ...	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: rs12720449 dbSNP
Genome: hg38
Position: chr11:2,588,804-2,588,804
Variant Type: snv
Reference Allele: C
Alternative Allele: A
East Asian Chromosome Counts (ExAC): 8546
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): 118590
Allele Counts in All Race (ExAC): 12
Heterozygous Counts in All Race (ExAC): 11
Homozygous Counts in All Race (ExAC): 0
Allele Frequency in All Race (ExAC): 1.0118897040222615E-4

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