chr11:2594121:T> Detail (hg19) (KCNQ1)

Information

Genome

Assembly Position
hg19 chr11:2,594,121-2,594,121
hg38 chr11:2,572,891-2,572,891 

HGVS

Type Transcript Protein
RefSeq NM_181798.1:c.445delT NP_861463.1:p.Ser149ProfsTer13
NM_000218.2:c.826delT NP_000209.2:p.Ser276ProfsTer13
Ensemble ENST00000335475.6:c.445delT ENST00000335475.6:p.Ser149ProfsTer13
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance 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
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Likely pathogenic 2013-12-09 criteria provided, single submitter Congenital long QT syndrome,Jervell and Lange-Nielsen syndrome germline Detail
Likely pathogenic 2013-12-09 criteria provided, single submitter Congenital long QT syndrome,Jervell and Lange-Nielsen syndrome germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.585 Jervell-Lange Nielsen syndrome NA CLINVAR Detail
Annotation

Annotations

DescrptionSourceLinks
NM_000218.3(KCNQ1):c.826del (p.Ser276fs) AND multiple conditions ClinVar Detail
NM_000218.3(KCNQ1):c.826del (p.Ser276fs) AND multiple conditions ClinVar 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
rs786204778 dbSNP
Genome
hg19
Position
chr11:2,594,121-2,594,121
Variant Type
snv
Reference Allele
T
Alternative Allele
-
Genome browser