chr11:2588804:C>T Detail (hg38) (KCNQ1)

Information

Genome

Assembly Position
hg19 chr11:2,610,034-2,610,034 View the variant detail on this assembly version.
hg38 chr11:2,588,804-2,588,804

HGVS

Type Transcript Protein
RefSeq NM_000218.2:c.1343C>T NP_000209.2:p.Pro448Leu
NM_181798.1:c.962C>T NP_861463.1:p.Pro321Leu
Ensemble ENST00000155840.12:c.1343C>T ENST00000155840.12:p.Pro448Leu
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance Conflicting classifications of pathogenicity
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
not provided no assertion provided Congenital long QT syndrome germline Detail
Conflicting interpretations of pathogenicity 2024-03-18 criteria provided, conflicting interpretations not specified germline Detail
Uncertain significance 2016-12-01 criteria provided, single submitter not provided germline Detail
Uncertain significance 2019-05-07 criteria provided, single submitter Short QT syndrome type 2 germline Detail
Uncertain significance 2019-05-07 criteria provided, single submitter Jervell and Lange-Nielsen syndrome 1 germline Detail
Uncertain significance 2019-05-07 criteria provided, single submitter long QT syndrome 1 germline Detail
Uncertain significance 2019-05-07 criteria provided, single submitter Atrial fibrillation, familial, 3 germline Detail
Conflicting interpretations of pathogenicity 2023-11-28 criteria provided, conflicting interpretations long QT syndrome germline Detail
Uncertain significance 2023-05-09 criteria provided, single submitter Cardiac arrhythmia germline Detail
Uncertain significance 2019-10-02 criteria provided, single submitter germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.132 Congenital long QT syndrome Given the inconsistencies between the genotype (LQT1) and clinical phenotype (LQ... BeFree 15242738 Detail
0.133 Congenital long QT syndrome Given the inconsistencies between the genotype (LQT1) and clinical phenotype (LQ... BeFree 15242738 Detail
0.133 Congenital long QT syndrome NA CLINVAR Detail
0.573 Romano-Ward Syndrome NA CLINVAR Detail
Annotation

Annotations

DescrptionSourceLinks
NM_000218.3(KCNQ1):c.1343C>T (p.Pro448Leu) AND Congenital long QT syndrome ClinVar Detail
NM_000218.3(KCNQ1):c.1343C>T (p.Pro448Leu) AND not specified ClinVar Detail
NM_000218.3(KCNQ1):c.1343C>T (p.Pro448Leu) AND not provided ClinVar Detail
NM_000218.3(KCNQ1):c.1343C>T (p.Pro448Leu) AND Short QT syndrome type 2 ClinVar Detail
NM_000218.3(KCNQ1):c.1343C>T (p.Pro448Leu) AND Jervell and Lange-Nielsen syndrome 1 ClinVar Detail
NM_000218.3(KCNQ1):c.1343C>T (p.Pro448Leu) AND Long QT syndrome 1 ClinVar Detail
NM_000218.3(KCNQ1):c.1343C>T (p.Pro448Leu) AND Atrial fibrillation, familial, 3 ClinVar Detail
NM_000218.3(KCNQ1):c.1343C>T (p.Pro448Leu) AND Long QT syndrome ClinVar Detail
NM_000218.3(KCNQ1):c.1343C>T (p.Pro448Leu) AND Cardiac arrhythmia ClinVar Detail
NM_000218.3(KCNQ1):c.1343C>T (p.Pro448Leu) AND Cardiovascular phenotype ClinVar Detail
Given the inconsistencies between the genotype (LQT1) and clinical phenotype (LQT2) in our two LQTS ... DisGeNET Detail
Given the inconsistencies between the genotype (LQT1) and clinical phenotype (LQT2) in our two LQTS ... DisGeNET Detail
NA 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
rs12720449 dbSNP
Genome
hg38
Position
chr11:2,588,804-2,588,804
Variant Type
snv
Reference Allele
C
Alternative Allele
T
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