chr11:2593319:G>C Detail (hg19) (KCNQ1)

Information

Genome

Assembly Position
hg19 chr11:2,593,319-2,593,319
hg38 chr11:2,572,089-2,572,089 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_181798.1:c.379G>C NP_861463.1:p.Val127Leu
NM_000218.2:c.760G>C NP_000209.2:p.Val254Leu
Ensemble ENST00000646564.2:c.478-11346G>C
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance not provided
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
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.417 long QT syndrome NA CLINVAR Detail
0.417 long QT syndrome The second mutation, V254M in KCNQ1, co-segregated with higher QT intervals and ... BeFree 12820704 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.760G>C (p.Val254Leu) AND Congenital long QT syndrome ClinVar Detail
NA DisGeNET Detail
The second mutation, V254M in KCNQ1, co-segregated with higher QT intervals and symptoms in other fa... 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
rs120074179 dbSNP
Genome
hg19
Position
chr11:2,593,319-2,593,319
Variant Type
snv
Reference Allele
G
Alternative Allele
C
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