chr11:2572975:T>C Detail (hg38) (KCNQ1)

Information

Genome

Assembly Position
hg19 chr11:2,594,205-2,594,205 View the variant detail on this assembly version.
hg38 chr11:2,572,975-2,572,975

HGVS

Type Transcript Protein
RefSeq NM_000218.2:c.910T>C NP_000209.2:p.Trp304Arg
NM_181798.1:c.529T>C NP_861463.1:p.Trp177Arg
Ensemble ENST00000155840.12:c.910T>C ENST00000155840.12:p.Trp304Arg
Summary

MGeND

Clinical significance
Variant entry
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
[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
Pathogenic 2023-09-13 criteria provided, single submitter long QT syndrome germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
<0.001 Acquired long QT syndrome DNA samples were screened for the four common Finnish founder mutations (KCNQ1 G... BeFree 17467628 Detail
0.121 Acquired long QT syndrome DNA samples were screened for the four common Finnish founder mutations (KCNQ1 G... BeFree 17467628 Detail
0.417 long QT syndrome A total of six compound heterozygotes were identified who had the HERG R176W mut... BeFree 16754261 Detail
0.133 Congenital long QT syndrome NA CLINVAR Detail
Annotation

Annotations

DescrptionSourceLinks
NM_000218.3(KCNQ1):c.910T>C (p.Trp304Arg) AND Congenital long QT syndrome ClinVar Detail
NM_000218.3(KCNQ1):c.910T>C (p.Trp304Arg) AND Long QT syndrome ClinVar Detail
DNA samples were screened for the four common Finnish founder mutations (KCNQ1 G589D and IVS7-2A--&g... DisGeNET Detail
DNA samples were screened for the four common Finnish founder mutations (KCNQ1 G589D and IVS7-2A--&g... DisGeNET Detail
A total of six compound heterozygotes were identified who had the HERG R176W mutation in combination... 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
rs199473466 dbSNP
Genome
hg38
Position
chr11:2,572,975-2,572,975
Variant Type
snv
Reference Allele
T
Alternative Allele
C
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