chr11:2570723:GCGCT> Detail (hg38) (KCNQ1)

Information

Genome

Assembly Position
hg19 chr11:2,591,953-2,591,957 
hg38 chr11:2,570,723-2,570,727

HGVS

Type Transcript Protein
RefSeq NM_000218.2:c.573_577delGCGCT NP_000209.2:p.Arg192CysfsTer91
NM_181798.1:c.192_196delGCGCT NP_861463.1:p.Arg65CysfsTer91
Ensemble ENST00000155840.12:c.573_577delGCGCT ENST00000155840.12:p.Arg192CysfsTer91
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
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
not provided no assertion provided Jervell and Lange-Nielsen syndrome 1 germline Detail
Pathogenic 2023-01-17 criteria provided, multiple submitters, no conflicts not provided germline Detail
Pathogenic 2023-12-07 criteria provided, multiple submitters, no conflicts long QT syndrome germline Detail
Pathogenic 2023-01-17 criteria provided, multiple submitters, no conflicts germline Detail
Pathogenic 2017-06-28 criteria provided, single submitter Congenital long QT syndrome,Jervell and Lange-Nielsen syndrome germline Detail
Pathogenic 2017-06-28 criteria provided, single submitter Congenital long QT syndrome,Jervell and Lange-Nielsen syndrome germline Detail
Pathogenic 2023-03-23 criteria provided, multiple submitters, no conflicts long QT syndrome 1 germline Detail
Pathogenic 2018-10-08 criteria provided, single submitter long QT syndrome 1,Jervell and Lange-Nielsen syndrome 1 germline Detail
Pathogenic 2018-10-08 criteria provided, single submitter long QT syndrome 1,Jervell and Lange-Nielsen syndrome 1 germline Detail
Pathogenic criteria provided, single submitter KCNQ1-related disorder germline Detail
Pathogenic 2023-05-01 criteria provided, single submitter Cardiac arrhythmia germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.585 Jervell-Lange Nielsen syndrome NA CLINVAR Detail
Annotation

Annotations

DescrptionSourceLinks
NM_000218.3(KCNQ1):c.573_577del (p.Arg192fs) AND Jervell and Lange-Nielsen syndrome 1 ClinVar Detail
NM_000218.3(KCNQ1):c.573_577del (p.Arg192fs) AND not provided ClinVar Detail
NM_000218.3(KCNQ1):c.573_577del (p.Arg192fs) AND Long QT syndrome ClinVar Detail
NM_000218.3(KCNQ1):c.573_577del (p.Arg192fs) AND Cardiovascular phenotype ClinVar Detail
NM_000218.3(KCNQ1):c.573_577del (p.Arg192fs) AND multiple conditions ClinVar Detail
NM_000218.3(KCNQ1):c.573_577del (p.Arg192fs) AND multiple conditions ClinVar Detail
NM_000218.3(KCNQ1):c.573_577del (p.Arg192fs) AND Long QT syndrome 1 ClinVar Detail
NM_000218.3(KCNQ1):c.573_577del (p.Arg192fs) AND multiple conditions ClinVar Detail
NM_000218.3(KCNQ1):c.573_577del (p.Arg192fs) AND multiple conditions ClinVar Detail
NM_000218.3(KCNQ1):c.573_577del (p.Arg192fs) AND KCNQ1-related disorder ClinVar Detail
NM_000218.3(KCNQ1):c.573_577del (p.Arg192fs) AND Cardiac arrhythmia 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
rs397508118 dbSNP
Genome
hg38
Position
chr11:2,570,723-2,570,727
Variant Type
snv
Reference Allele
GCGCT
Alternative Allele
-
East Asian Chromosome Counts (ExAC)
8582
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)
119832
Allele Counts in All Race (ExAC)
4
Heterozygous Counts in All Race (ExAC)
4
Homozygous Counts in All Race (ExAC)
0
Allele Frequency in All Race (ExAC)
3.3380065424928234E-5
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