chr11:2587690:G>A Detail (hg38) (KCNQ1)

Information

Genome

Assembly Position
hg19 chr11:2,608,920-2,608,920 View the variant detail on this assembly version.
hg38 chr11:2,587,690-2,587,690

HGVS

Type Transcript Protein
RefSeq NM_000218.2:c.1249G>A NP_000209.2:p.Val417Met
NM_181798.1:c.868G>A NP_861463.1:p.Val290Met
Ensemble ENST00000155840.12:c.1249G>A ENST00000155840.12:p.Val417Met
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance Likely benign
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 2004-03-01 no assertion criteria provided long QT syndrome 1 germline Detail
Likely benign 2019-05-24 criteria provided, single submitter Cardiac arrhythmia germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.573 Romano-Ward Syndrome NA CLINVAR Detail
Annotation

Annotations

DescrptionSourceLinks
NM_000218.2(KCNQ1):c.[1249G>A;760G>A] AND Long QT syndrome 1 ClinVar Detail
NM_000218.3(KCNQ1):c.1249G>A (p.Val417Met) 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
rs267607197 dbSNP
Genome
hg38
Position
chr11:2,587,690-2,587,690
Variant Type
snv
Reference Allele
G
Alternative Allele
A
Genome browser