chr11:2799233:C>T Detail (hg19) (KCNQ1)

Information

Genome

Assembly Position
hg19 chr11:2,799,233-2,799,233
hg38 chr11:2,778,003-2,778,003 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_181798.1:c.1379C>T NP_861463.1:p.Thr460Met
NM_000218.2:c.1760C>T NP_000209.2:p.Thr587Met
Ensemble ENST00000526095.2:c.164C>T ENST00000526095.2:p.Thr55Met
Summary

MGeND

Clinical significance Likely pathogenic Pathogenic
Variant entry 4
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
MGeND
Clinical significance Last evaluated Condition Origin Submission ID Submitter Institute Citation Comment Image
Likely pathogenic 2018/11/20 long qt syndrome germline MGS000016
(TMGS000059) 		Masashi Mizokami Shinshu University
Pathogenic long qt syndrome germline MGS000001
(TMGS000154) 		Kenjiro Kosaki Keio University
Pathogenic long qt syndrome germline MGS000001
(TMGS000174) 		Kenjiro Kosaki Keio University
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Pathogenic 1999-02-19 no assertion criteria provided Jervell and Lange-Nielsen syndrome 1 germline Detail
Pathogenic 2024-01-07 criteria provided, multiple submitters, no conflicts long QT syndrome germline Detail
not provided no assertion provided Congenital long QT syndrome germline Detail
Pathogenic 2017-12-08 criteria provided, single submitter not provided germline Detail
Pathogenic 2019-03-07 criteria provided, single submitter germline Detail
Pathogenic 2023-08-01 criteria provided, single submitter long QT syndrome 1 germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.585 Jervell-Lange Nielsen syndrome NA CLINVAR Detail
0.417 long QT syndrome Trafficking-deficient long QT syndrome mutation KCNQ1-T587M confers severe clini... BeFree 19959132 Detail
0.003 atrioventricular block This case is the first report of fetal 2:1 AV block with KCNQ1 mutation (T587M) ... BeFree 20487114 Detail
0.388 long QT syndrome The trafficking-deficient LQTS mutation KCNQ1-T587M fails to show the chaperonin... BeFree 19959132 Detail
0.133 Congenital long QT syndrome NA CLINVAR Detail
Annotation

Annotations

DescrptionSourceLinks
NM_000218.3(KCNQ1):c.1760C>T (p.Thr587Met) AND Jervell and Lange-Nielsen syndrome 1 ClinVar Detail
NM_000218.3(KCNQ1):c.1760C>T (p.Thr587Met) AND Long QT syndrome ClinVar Detail
NM_000218.3(KCNQ1):c.1760C>T (p.Thr587Met) AND Congenital long QT syndrome ClinVar Detail
NM_000218.3(KCNQ1):c.1760C>T (p.Thr587Met) AND not provided ClinVar Detail
NM_000218.3(KCNQ1):c.1760C>T (p.Thr587Met) AND Cardiovascular phenotype ClinVar Detail
NM_000218.3(KCNQ1):c.1760C>T (p.Thr587Met) AND Long QT syndrome 1 ClinVar Detail
NA DisGeNET Detail
Trafficking-deficient long QT syndrome mutation KCNQ1-T587M confers severe clinical phenotype by imp... DisGeNET Detail
This case is the first report of fetal 2:1 AV block with KCNQ1 mutation (T587M) and unmasked materna... DisGeNET Detail
The trafficking-deficient LQTS mutation KCNQ1-T587M fails to show the chaperoning function that enha... 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
rs120074189 dbSNP
Genome
hg19
Position
chr11:2,799,233-2,799,233
Variant Type
snv
Reference Allele
C
Alternative Allele
T
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