chr11:2583546:G>A Detail (hg38) (KCNQ1)

Information

Genome

Assembly Position
hg19 chr11:2,604,776-2,604,776 View the variant detail on this assembly version.
hg38 chr11:2,583,546-2,583,546

HGVS

Type Transcript Protein
RefSeq NM_000218.2:c.1032+1G>A
NM_181798.1:c.651+1G>A
Ensemble ENST00000155840.12:c.1032+1G>A
Summary

MGeND

Clinical significance Likely pathogenic Pathogenic
Variant entry 2
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
MGeND
Clinical significance Last evaluated Condition Origin Submission ID Submitter Institute Citation Comment Image
Likely pathogenic long qt syndrome germline MGS000001
(TMGS000137) 		Kenjiro Kosaki Keio University
Pathogenic long qt syndrome germline MGS000001
(TMGS000137) 		Kenjiro Kosaki Keio University
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Likely pathogenic 2022-01-18 criteria provided, single submitter not provided germline Detail
Pathogenic 2023-10-16 criteria provided, single submitter long QT syndrome germline Detail
Pathogenic 2022-12-29 criteria provided, single submitter germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.417 long QT syndrome NA CLINVAR Detail
Annotation

Annotations

DescrptionSourceLinks
NM_000218.3(KCNQ1):c.1032+1G>A AND not provided ClinVar Detail
NM_000218.3(KCNQ1):c.1032+1G>A AND Long QT syndrome ClinVar Detail
NM_000218.3(KCNQ1):c.1032+1G>A AND Cardiovascular phenotype ClinVar Detail
NA DisGeNET Detail

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs397508070 dbSNP
Genome
hg38
Position
chr11:2,583,546-2,583,546
Variant Type
snv
Reference Allele
G
Alternative Allele
A
Genome browser