chr11:2572895:C>G 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	chr11:2,594,125-2,594,125 View the variant detail on this assembly version.
hg38	chr11:2,572,895-2,572,895

HGVS

KCNQ1

Type	Transcript	Protein
RefSeq	NM_000218.2:c.830C>G	NP_000209.2:p.Ser277Trp
	NM_181798.1:c.449C>G	NP_861463.1:p.Ser150Trp
Ensemble	ENST00000155840.12:c.830C>G	ENST00000155840.12:p.Ser277Trp
	ENST00000335475.6:c.449C>G	ENST00000335475.6:p.Ser150Trp
	ENST00000496887.7:c.569C>G	ENST00000496887.7:p.Ser190Trp
	ENST00000646564.2:c.478-10540C>G
	ENST00000713725.1:c.780+786C>G

Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics	Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance	Pathogenic Likely pathogenic
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
	COSMIC
	MONDO

Disease area statistics

[No Data.]

MGeND

[No Data.]

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Likely pathogenic	2021-09-01	criteria provided, single submitter	long QT syndrome	germline	Detail
not provided		no assertion provided	Congenital long QT syndrome	germline	Detail
Pathogenic	2012-01-16	criteria provided, single submitter	not provided	germline	Detail

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
0.417	long QT syndrome	NA	CLINVAR		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
0.417	long QT syndrome	Biophysical properties of mutant KCNQ1 S277L channels linked to hereditary long ...	BeFree	21241800	Detail
0.133	Congenital long QT syndrome	NA	CLINVAR		Detail

Annotation

Annotations

Descrption	Source	Links
NM_000218.3(KCNQ1):c.830C>G (p.Ser277Trp) AND Long QT syndrome	ClinVar	Detail
NM_000218.3(KCNQ1):c.830C>G (p.Ser277Trp) AND Congenital long QT syndrome	ClinVar	Detail
NM_000218.3(KCNQ1):c.830C>G (p.Ser277Trp) AND not provided	ClinVar	Detail
NA	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
Biophysical properties of mutant KCNQ1 S277L channels linked to hereditary long QT syndrome with phe...	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: rs199472730 dbSNP
Genome: hg38
Position: chr11:2,572,895-2,572,895
Variant Type: snv
Reference Allele: C
Alternative Allele: G

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