chr7:150655198:C>T Detail (hg19) (KCNH2)

Information

Genome

Assembly Position
hg19 chr7:150,655,198-150,655,198
hg38 chr7:150,958,110-150,958,110 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_000238.3:c.865G>A NP_000229.1:p.Glu289Lys
Ensemble ENST00000262186.10:c.865G>A ENST00000262186.10:p.Glu289Lys
ENST00000713701.1:c.565G>A ENST00000713701.1:p.Glu189Lys
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

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

Prediction

ClinVar

Clinical Significance Uncertain significance
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 tgv31478871 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
Uncertain significance 2015-06-25 criteria provided, single submitter long QT syndrome 2 unknown Detail
Uncertain significance 2024-01-27 criteria provided, multiple submitters, no conflicts long QT syndrome germline Detail
Uncertain significance 2022-07-28 criteria provided, single submitter germline Detail
Uncertain significance 2018-10-31 criteria provided, single submitter long QT syndrome 2,Short QT syndrome type 1 unknown Detail
Uncertain significance 2018-10-31 criteria provided, single submitter long QT syndrome 2,Short QT syndrome type 1 unknown Detail
Uncertain significance 2023-06-29 criteria provided, single submitter not provided germline Detail
Uncertain significance 2021-09-23 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
0.361 long QT syndrome 2 NA CLINVAR Detail
Annotation

Annotations

DescrptionSourceLinks
NM_000238.4(KCNH2):c.865G>A (p.Glu289Lys) AND Congenital long QT syndrome ClinVar Detail
NM_000238.4(KCNH2):c.865G>A (p.Glu289Lys) AND Long QT syndrome 2 ClinVar Detail
NM_000238.4(KCNH2):c.865G>A (p.Glu289Lys) AND Long QT syndrome ClinVar Detail
NM_000238.4(KCNH2):c.865G>A (p.Glu289Lys) AND Cardiovascular phenotype ClinVar Detail
NM_000238.4(KCNH2):c.865G>A (p.Glu289Lys) AND multiple conditions ClinVar Detail
NM_000238.4(KCNH2):c.865G>A (p.Glu289Lys) AND multiple conditions ClinVar Detail
NM_000238.4(KCNH2):c.865G>A (p.Glu289Lys) AND not provided ClinVar Detail
NM_000238.4(KCNH2):c.865G>A (p.Glu289Lys) 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
rs199472880 dbSNP
Genome
hg19
Position
chr7:150,655,198-150,655,198
Variant Type
snv
Reference Allele
C
Alternative Allele
T
Filtering Status (HGVD)
LowQual
# of samples (HGVD)
753
Mean of sample read depth (HGVD)
11.89
Standard deviation of sample read depth (HGVD)
5.96
Number of reference allele (HGVD)
1505
Number of alternative allele (HGVD)
1
Allele Frequency (HGVD)
6.640106241699867E-4
Gene Symbol (HGVD)
KCNH2
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))
rs199472880
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
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