chr7:150948483:G>A Detail (hg38) (KCNH2)

Information

Genome

Assembly Position
hg19 chr7:150,645,571-150,645,571 View the variant detail on this assembly version.
hg38 chr7:150,948,483-150,948,483

HGVS

Type Transcript Protein
RefSeq NM_000238.3:c.2653C>T NP_000229.1:p.Arg885Cys
NM_172057.2:c.1633C>T NP_742054.1:p.Arg545Cys
Ensemble ENST00000262186.10:c.2653C>T ENST00000262186.10:p.Arg885Cys
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:<0.001
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 tgv31477783 TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Benign 2023-08-08 criteria provided, single submitter Congenital long QT syndrome germline Detail
Uncertain significance 2024-01-02 criteria provided, multiple submitters, no conflicts long QT syndrome germline Detail
Uncertain significance 2018-07-30 criteria provided, single submitter not specified germline Detail
Uncertain significance 2023-03-20 criteria provided, single submitter Cardiac arrhythmia germline Detail
Likely benign 2022-09-27 criteria provided, single submitter germline Detail
Uncertain significance 2021-09-29 criteria provided, single submitter Short QT syndrome type 1,long QT syndrome 2 unknown Detail
Uncertain significance 2021-09-29 criteria provided, single submitter Short QT syndrome type 1,long QT syndrome 2 unknown Detail
Likely benign 2023-12-01 criteria provided, single submitter not provided 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.2653C>T (p.Arg885Cys) AND Congenital long QT syndrome ClinVar Detail
NM_000238.4(KCNH2):c.2653C>T (p.Arg885Cys) AND Long QT syndrome ClinVar Detail
NM_000238.4(KCNH2):c.2653C>T (p.Arg885Cys) AND not specified ClinVar Detail
NM_000238.4(KCNH2):c.2653C>T (p.Arg885Cys) AND Cardiac arrhythmia ClinVar Detail
NM_000238.4(KCNH2):c.2653C>T (p.Arg885Cys) AND Cardiovascular phenotype ClinVar Detail
NM_000238.4(KCNH2):c.2653C>T (p.Arg885Cys) AND multiple conditions ClinVar Detail
NM_000238.4(KCNH2):c.2653C>T (p.Arg885Cys) AND multiple conditions ClinVar Detail
NM_000238.4(KCNH2):c.2653C>T (p.Arg885Cys) AND not provided 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
rs143512106 dbSNP
Genome
hg38
Position
chr7:150,948,483-150,948,483
Variant Type
snv
Reference Allele
G
Alternative Allele
A
ToMMo VCF FILTER column value (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
PASS
Total VCF ID column value (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
rs143512106
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.0001
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
1
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16758
East Asian Chromosome Counts (ExAC)
8494
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)
119914
Allele Counts in All Race (ExAC)
35
Heterozygous Counts in All Race (ExAC)
35
Homozygous Counts in All Race (ExAC)
0
Allele Frequency in All Race (ExAC)
2.918758443551212E-4
Genome browser