chr11:2527992:CT> 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	chr11:2,549,222-2,549,223
hg38	chr11:2,527,992-2,527,993

HGVS

KCNQ1

Type	Transcript	Protein
RefSeq	NM_000218.2:c.451_452delCT	NP_000209.2:p.Leu151GlyfsTer133
	NM_181798.1:c.70_71delCT	NP_861463.1:p.Leu24GlyfsTer133
Ensemble	ENST00000155840.12:c.451_452delCT	ENST00000155840.12:p.Leu151GlyfsTer133
	ENST00000335475.6:c.70_71delCT	ENST00000335475.6:p.Leu24GlyfsTer133
	ENST00000496887.7:c.190_191delCT	ENST00000496887.7:p.Leu64GlyfsTer133
	ENST00000646564.2:c.451_452delCT	ENST00000646564.2:p.Leu151GlyfsTer131
	ENST00000713725.1:c.451_452delCT	ENST00000713725.1:p.Leu151GlyfsTer264

Summary

MGeND

Clinical significance
Variant entry
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

[No Data.]

MGeND

[No Data.]

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Pathogenic	1999-03-16	no assertion criteria provided	Jervell and Lange-Nielsen syndrome 1	germline	Detail
Pathogenic	2019-01-11	criteria provided, single submitter	not provided	germline	Detail
Pathogenic	2024-01-24	criteria provided, single submitter	long QT syndrome	germline	Detail

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
0.585	Jervell-Lange Nielsen syndrome	NA	CLINVAR		Detail

Annotation

Annotations

Descrption	Source	Links
NM_000218.3(KCNQ1):c.451_452del (p.Leu151fs) AND Jervell and Lange-Nielsen syndrome 1	ClinVar	Detail
NM_000218.3(KCNQ1):c.451_452del (p.Leu151fs) AND not provided	ClinVar	Detail
NM_000218.3(KCNQ1):c.451_452del (p.Leu151fs) AND Long QT syndrome	ClinVar	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: rs397508110 dbSNP
Genome: hg38
Position: chr11:2,527,992-2,527,993
Variant Type: snv
Reference Allele: CT
Alternative Allele: -

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