chr11:2797229:CAGTAC>GTTGAGA Detail (hg19) (KCNQ1)

Information

Genome

Assembly Position
hg19 chr11:2,797,229-2,797,234
hg38 chr11:2,775,999-2,776,004 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_181798.1:c.1249_1254delinsGTTGAGA NP_861463.1:p.Gln417ValfsTer108
NM_000218.2:c.1630_1635delinsGTTGAGA NP_000209.2:p.Gln544ValfsTer108
Ensemble ENST00000713725.1:c.1489_1494delinsGTTGAGA ENST00000713725.1:p.Gln497ValfsTer108
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
Pathogenic 1997-02-01 no assertion criteria provided Jervell and Lange-Nielsen syndrome 1 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.1630_1635delinsGTTGAGA (p.Gln544fs) AND Jervell and Lange-Nielsen syndrome 1 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
rs397515637 dbSNP
Genome
hg19
Position
chr11:2,797,229-2,797,234
Variant Type
snv
Reference Allele
CAGTAC
Alternative Allele
GTTGAGA
Genome browser