chr11:2776997:C>T Detail (hg38) (KCNQ1)

Information

Genome

Assembly Position
hg19 chr11:2,798,227-2,798,227 View the variant detail on this assembly version.
hg38 chr11:2,776,997-2,776,997

HGVS

Type Transcript Protein
RefSeq NM_000218.2:c.1697C>T NP_000209.2:p.Ser566Phe
NM_181798.1:c.1316C>T NP_861463.1:p.Ser439Phe
Ensemble ENST00000713725.1:c.1556C>T ENST00000713725.1:p.Ser519Phe
Summary

MGeND

Clinical significance
Variant entry
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 COSM3446591 COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Pathogenic Likely pathogenic 2023-09-26 criteria provided, multiple submitters, no conflicts long QT syndrome germline Detail
not provided no assertion provided Congenital long QT syndrome germline Detail
Likely pathogenic 2022-02-24 criteria provided, multiple submitters, no conflicts not provided germline Detail
Likely pathogenic 2016-03-10 no assertion criteria provided long QT syndrome 1 paternal Detail
Likely pathogenic 2016-04-18 no assertion criteria provided not specified germline Detail
Likely pathogenic 2024-02-22 criteria provided, single submitter germline Detail
Likely pathogenic 2021-11-18 criteria provided, single submitter Atrial fibrillation, familial, 3,Short QT syndrome type 2,Beckwith-Wiedemann syndrome,long QT syndrome 1,Jervell and Lange-Nielsen syndrome 1 unknown Detail
Likely pathogenic 2021-11-18 criteria provided, single submitter Atrial fibrillation, familial, 3,Short QT syndrome type 2,Beckwith-Wiedemann syndrome,long QT syndrome 1,Jervell and Lange-Nielsen syndrome 1 unknown Detail
Likely pathogenic 2021-11-18 criteria provided, single submitter Atrial fibrillation, familial, 3,Short QT syndrome type 2,Beckwith-Wiedemann syndrome,long QT syndrome 1,Jervell and Lange-Nielsen syndrome 1 unknown Detail
Likely pathogenic 2021-11-18 criteria provided, single submitter Atrial fibrillation, familial, 3,Short QT syndrome type 2,Beckwith-Wiedemann syndrome,long QT syndrome 1,Jervell and Lange-Nielsen syndrome 1 unknown Detail
Likely pathogenic 2021-11-18 criteria provided, single submitter Atrial fibrillation, familial, 3,Short QT syndrome type 2,Beckwith-Wiedemann syndrome,long QT syndrome 1,Jervell and Lange-Nielsen syndrome 1 unknown Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.417 long QT syndrome NA CLINVAR Detail
0.133 Congenital long QT syndrome NA CLINVAR Detail
Annotation

Annotations

DescrptionSourceLinks
NM_000218.3(KCNQ1):c.1697C>T (p.Ser566Phe) AND Long QT syndrome ClinVar Detail
NM_000218.3(KCNQ1):c.1697C>T (p.Ser566Phe) AND Congenital long QT syndrome ClinVar Detail
NM_000218.3(KCNQ1):c.1697C>T (p.Ser566Phe) AND not provided ClinVar Detail
NM_000218.3(KCNQ1):c.1697C>T (p.Ser566Phe) AND Long QT syndrome 1 ClinVar Detail
NM_000218.3(KCNQ1):c.1697C>T (p.Ser566Phe) AND not specified ClinVar Detail
NM_000218.3(KCNQ1):c.1697C>T (p.Ser566Phe) AND Cardiovascular phenotype ClinVar Detail
NM_000218.3(KCNQ1):c.1697C>T (p.Ser566Phe) AND multiple conditions ClinVar Detail
NM_000218.3(KCNQ1):c.1697C>T (p.Ser566Phe) AND multiple conditions ClinVar Detail
NM_000218.3(KCNQ1):c.1697C>T (p.Ser566Phe) AND multiple conditions ClinVar Detail
NM_000218.3(KCNQ1):c.1697C>T (p.Ser566Phe) AND multiple conditions ClinVar Detail
NM_000218.3(KCNQ1):c.1697C>T (p.Ser566Phe) AND multiple conditions ClinVar 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
rs199472804 dbSNP
Genome
hg38
Position
chr11:2,776,997-2,776,997
Variant Type
snv
Reference Allele
C
Alternative Allele
T
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