chr7:150647283:G>A Detail (hg19) (KCNH2)

Information

Genome

Assembly Position
hg19 chr7:150,647,283-150,647,283
hg38 chr7:150,950,195-150,950,195 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_000238.3:c.2371C>T NP_000229.1:p.Arg791Trp
NM_172057.2:c.1351C>T NP_742054.1:p.Arg451Trp
Ensemble ENST00000262186.10:c.2371C>T ENST00000262186.10:p.Arg791Trp
Summary

MGeND

Clinical significance
Variant entry
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 Conflicting classifications of pathogenicity
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
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
Conflicting interpretations of pathogenicity 2024-02-05 criteria provided, conflicting interpretations long QT syndrome germline unknown Detail
Likely benign 2019-07-29 criteria provided, single submitter not provided germline Detail
Likely benign 2024-02-13 criteria provided, single submitter germline Detail
Uncertain significance 2018-01-13 criteria provided, single submitter long QT syndrome 2 germline Detail
Likely pathogenic no assertion criteria provided Brugada syndrome 1 germline Detail
Uncertain significance 2023-03-20 criteria provided, single submitter Cardiac arrhythmia germline Detail
Likely benign 2024-02-05 criteria provided, single submitter not specified germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.132 Congenital long QT syndrome NA CLINVAR Detail
0.388 long QT syndrome NA CLINVAR Detail
Annotation

Annotations

DescrptionSourceLinks
NM_000238.4(KCNH2):c.2371C>T (p.Arg791Trp) AND Congenital long QT syndrome ClinVar Detail
NM_000238.4(KCNH2):c.2371C>T (p.Arg791Trp) AND Long QT syndrome ClinVar Detail
NM_000238.4(KCNH2):c.2371C>T (p.Arg791Trp) AND not provided ClinVar Detail
NM_000238.4(KCNH2):c.2371C>T (p.Arg791Trp) AND Cardiovascular phenotype ClinVar Detail
NM_000238.4(KCNH2):c.2371C>T (p.Arg791Trp) AND Long QT syndrome 2 ClinVar Detail
NM_000238.4(KCNH2):c.2371C>T (p.Arg791Trp) AND Brugada syndrome 1 ClinVar Detail
NM_000238.4(KCNH2):c.2371C>T (p.Arg791Trp) AND Cardiac arrhythmia ClinVar Detail
NM_000238.4(KCNH2):c.2371C>T (p.Arg791Trp) AND not specified ClinVar 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
rs138498207 dbSNP
Genome
hg19
Position
chr7:150,647,283-150,647,283
Variant Type
snv
Reference Allele
G
Alternative Allele
A
East Asian Chromosome Counts (ExAC)
8626
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)
120900
Allele Counts in All Race (ExAC)
13
Heterozygous Counts in All Race (ExAC)
13
Homozygous Counts in All Race (ExAC)
0
Allele Frequency in All Race (ExAC)
1.0752688172043011E-4
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