chr11:2549222:CT> Detail (hg19) (KCNQ1)

Information

Genome

Assembly Position
hg19 chr11:2,549,222-2,549,223
hg38 chr11:2,527,992-2,527,993 

HGVS

Type Transcript Protein
RefSeq NM_181798.1:c.70_71delCT NP_861463.1:p.Leu24GlyfsTer133
NM_000218.2:c.451_452delCT NP_000209.2:p.Leu151GlyfsTer133
Ensemble ENST00000646564.2:c.451_452delCT ENST00000646564.2:p.Leu151GlyfsTer131
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

[No Data.]

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
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

DescrptionSourceLinks
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
hg19
Position
chr11:2,549,222-2,549,223
Variant Type
snv
Reference Allele
CT
Alternative Allele
-
Genome browser