chr21:35821913:G>A Detail (hg19) (KCNE1)

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Summary
Information
Links
Disease area statistics
MGeND
ClinVar
CIViC
DisGeNET
Annotation
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Information

Genome

Assembly	Position
hg19	chr21:35,821,913-35,821,913
hg38	chr21:34,449,615-34,449,615 View the variant detail on this assembly version.

HGVS

KCNE1

Type	Transcript	Protein
RefSeq	NM_001270402.2:c.20C>T	NP_001257331.1:p.Thr7Ile
	NM_001270403.2:c.20C>T	NP_001257332.1:p.Thr7Ile
	NM_000219.5:c.20C>T	NP_000210.2:p.Thr7Ile
	NM_001127669.3:c.20C>T	NP_001121141.1:p.Thr7Ile
	NM_001127670.3:c.20C>T	NP_001121142.1:p.Thr7Ile
	NM_001127668.3:c.20C>T	NP_001121140.1:p.Thr7Ile
	NM_001270404.2:c.20C>T	NP_001257333.1:p.Thr7Ile
	NM_001270405.2:c.20C>T	NP_001257334.1:p.Thr7Ile
Ensemble	ENST00000337385.7:c.20C>T	ENST00000337385.7:p.Thr7Ile
	ENST00000399284.1:c.20C>T	ENST00000399284.1:p.Thr7Ile
	ENST00000399286.3:c.20C>T	ENST00000399286.3:p.Thr7Ile
	ENST00000399289.7:c.20C>T	ENST00000399289.7:p.Thr7Ile
	ENST00000416357.6:c.20C>T	ENST00000416357.6:p.Thr7Ile
	ENST00000432085.5:c.20C>T	ENST00000432085.5:p.Thr7Ile
	ENST00000611936.1:c.20C>T	ENST00000611936.1:p.Thr7Ile
	ENST00000621601.4:c.20C>T	ENST00000621601.4:p.Thr7Ile

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	Pathogenic
Review star
Show details

Links

KCNE1

Type	Database	ID	Link
Gene	MIM	176261	OMIM
	HGNC	6240	HGNC
	Ensembl	ENSG00000180509	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	1997-11-01	no assertion criteria provided	Jervell and Lange-Nielsen syndrome 2	germline	Detail
not provided		no assertion provided	Congenital long QT syndrome	germline	Detail

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
0.122	Congenital long QT syndrome	NA	CLINVAR		Detail
0.360	JERVELL AND LANGE-NIELSEN SYNDROME 2 (disorder)	NA	CLINVAR		Detail
0.360	JERVELL AND LANGE-NIELSEN SYNDROME 2 (disorder)	Post-translational N-glycosylation of type I transmembrane KCNE1 peptides: impli...	UNIPROT	21676880	Detail

Annotation

Annotations

Descrption	Source	Links
NM_000219.6(KCNE1):c.20C>T (p.Thr7Ile) AND Jervell and Lange-Nielsen syndrome 2	ClinVar	Detail
NM_000219.6(KCNE1):c.20C>T (p.Thr7Ile) AND Congenital long QT syndrome	ClinVar	Detail
NA	DisGeNET	Detail
NA	DisGeNET	Detail
Post-translational N-glycosylation of type I transmembrane KCNE1 peptides: implications for membrane...	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: rs28933384 dbSNP
Genome: hg19
Position: chr21:35,821,913-35,821,913
Variant Type: snv
Reference Allele: G
Alternative Allele: A
East Asian Chromosome Counts (ExAC): 8610
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): 120174
Allele Counts in All Race (ExAC): 1
Heterozygous Counts in All Race (ExAC): 1
Homozygous Counts in All Race (ExAC): 0
Allele Frequency in All Race (ExAC): 8.32126749546491E-6

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