chr7:150648826:A>G Detail (hg19) (KCNH2)

Information

Genome

Assembly Position
hg19 chr7:150,648,826-150,648,826
hg38 chr7:150,951,738-150,951,738 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_000238.3:c.1655T>C NP_000229.1:p.Leu552Ser
NM_172057.2:c.635T>C NP_742054.1:p.Leu212Ser
Ensemble ENST00000262186.10:c.1655T>C ENST00000262186.10:p.Leu552Ser
Summary

MGeND

Clinical significance Pathogenic
Variant entry 1
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:[No Data.]
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:<0.001

Prediction

ClinVar

Clinical Significance Pathogenic
Review star
Show details
Links
Type Database ID Link
Gene MIM 152427 OMIM
HGNC 6251 HGNC
Ensembl ENSG00000055118 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar
COSMIC COSM1087288 COSMIC
MONDO
Disease area statistics
MGeND
Clinical significance Last evaluated Condition Origin Submission ID Submitter Institute Citation Comment Image
Pathogenic other germline MGS000001
(TMGS000154) 		Kenjiro Kosaki Keio University
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
not provided no assertion provided Congenital long QT syndrome germline Detail
Pathogenic 2018-07-27 criteria provided, multiple submitters, no conflicts long QT syndrome 2 germline Detail
Pathogenic 2023-09-29 criteria provided, single submitter not provided germline Detail
Pathogenic 2022-05-27 criteria provided, single submitter germline Detail
Pathogenic 2024-01-08 criteria provided, multiple submitters, no conflicts long QT syndrome germline Detail
Pathogenic 2023-08-11 criteria provided, single submitter Cardiac arrhythmia 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
0.132 Congenital long QT syndrome NA CLINVAR Detail
Annotation

Annotations

DescrptionSourceLinks
NM_000238.4(KCNH2):c.1655T>C (p.Leu552Ser) AND Congenital long QT syndrome ClinVar Detail
NM_000238.4(KCNH2):c.1655T>C (p.Leu552Ser) AND Long QT syndrome 2 ClinVar Detail
NM_000238.4(KCNH2):c.1655T>C (p.Leu552Ser) AND not provided ClinVar Detail
NM_000238.4(KCNH2):c.1655T>C (p.Leu552Ser) AND Cardiovascular phenotype ClinVar Detail
NM_000238.4(KCNH2):c.1655T>C (p.Leu552Ser) AND Long QT syndrome ClinVar Detail
NM_000238.4(KCNH2):c.1655T>C (p.Leu552Ser) AND Cardiac arrhythmia 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
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
rs199472918 dbSNP
Genome
hg19
Position
chr7:150,648,826-150,648,826
Variant Type
snv
Reference Allele
A
Alternative Allele
G
East Asian Chromosome Counts (ExAC)
8630
East Asian Allele Counts (ExAC)
0
East Asian Heterozygous Counts (ExAC)
0
East Asian Homozygous Counts (ExAC)
0
East Asian Allele Frequency (ExAC)
0.0
Chromosome Counts in All Race (ExAC)
120494
Allele Counts in All Race (ExAC)
5
Heterozygous Counts in All Race (ExAC)
5
Homozygous Counts in All Race (ExAC)
0
Allele Frequency in All Race (ExAC)
4.1495842116619915E-5
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