chr11:2594092:T>C Detail (hg19) (KCNQ1)

Information

Genome

Assembly Position
hg19 chr11:2,594,092-2,594,092
hg38 chr11:2,572,862-2,572,862 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_181798.1:c.416T>C NP_861463.1:p.Leu139Pro
NM_000218.2:c.797T>C NP_000209.2:p.Leu266Pro
Ensemble ENST00000713725.1:c.780+753T>C
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
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 2024-01-30 criteria provided, multiple submitters, no conflicts long QT syndrome germline Detail
not provided no assertion provided Congenital long QT syndrome germline Detail
Pathogenic Likely pathogenic 2023-08-08 criteria provided, multiple submitters, no conflicts not provided germline Detail
Pathogenic 2021-07-29 criteria provided, single submitter germline Detail
Likely pathogenic 2021-08-23 criteria provided, single submitter Jervell and Lange-Nielsen syndrome 1,long QT syndrome 1,Short QT syndrome type 2,Atrial fibrillation, familial, 3,Beckwith-Wiedemann syndrome unknown Detail
Likely pathogenic 2021-08-23 criteria provided, single submitter Jervell and Lange-Nielsen syndrome 1,long QT syndrome 1,Short QT syndrome type 2,Atrial fibrillation, familial, 3,Beckwith-Wiedemann syndrome unknown Detail
Likely pathogenic 2021-08-23 criteria provided, single submitter Jervell and Lange-Nielsen syndrome 1,long QT syndrome 1,Short QT syndrome type 2,Atrial fibrillation, familial, 3,Beckwith-Wiedemann syndrome unknown Detail
Likely pathogenic 2021-08-23 criteria provided, single submitter Jervell and Lange-Nielsen syndrome 1,long QT syndrome 1,Short QT syndrome type 2,Atrial fibrillation, familial, 3,Beckwith-Wiedemann syndrome unknown Detail
Likely pathogenic 2021-08-23 criteria provided, single submitter Jervell and Lange-Nielsen syndrome 1,long QT syndrome 1,Short QT syndrome type 2,Atrial fibrillation, familial, 3,Beckwith-Wiedemann syndrome unknown Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.417 long QT syndrome NA CLINVAR Detail
0.417 long QT syndrome Genetic testing in this LQTS population suggests a common KCNQ1 Leu266Pro founde... BeFree 19817925 Detail
0.133 Congenital long QT syndrome NA CLINVAR Detail
Annotation

Annotations

DescrptionSourceLinks
NM_000218.3(KCNQ1):c.797T>C (p.Leu266Pro) AND Long QT syndrome ClinVar Detail
NM_000218.3(KCNQ1):c.797T>C (p.Leu266Pro) AND Congenital long QT syndrome ClinVar Detail
NM_000218.3(KCNQ1):c.797T>C (p.Leu266Pro) AND not provided ClinVar Detail
NM_000218.3(KCNQ1):c.797T>C (p.Leu266Pro) AND Cardiovascular phenotype ClinVar Detail
NM_000218.3(KCNQ1):c.797T>C (p.Leu266Pro) AND multiple conditions ClinVar Detail
NM_000218.3(KCNQ1):c.797T>C (p.Leu266Pro) AND multiple conditions ClinVar Detail
NM_000218.3(KCNQ1):c.797T>C (p.Leu266Pro) AND multiple conditions ClinVar Detail
NM_000218.3(KCNQ1):c.797T>C (p.Leu266Pro) AND multiple conditions ClinVar Detail
NM_000218.3(KCNQ1):c.797T>C (p.Leu266Pro) AND multiple conditions ClinVar Detail
NA DisGeNET Detail
Genetic testing in this LQTS population suggests a common KCNQ1 Leu266Pro founder effect, with the d... 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
rs199473460 dbSNP
Genome
hg19
Position
chr11:2,594,092-2,594,092
Variant Type
snv
Reference Allele
T
Alternative Allele
C
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