chr7:150952699:G>A Detail (hg38) (KCNH2)

Information

Genome

Assembly Position
hg19 chr7:150,649,787-150,649,787 View the variant detail on this assembly version.
hg38 chr7:150,952,699-150,952,699

HGVS

Type Transcript Protein
RefSeq NM_000238.3:c.1283C>T NP_000229.1:p.Ser428Leu
NM_172057.2:c.263C>T NP_742054.1:p.Ser88Leu
Ensemble ENST00000262186.10:c.1283C>T ENST00000262186.10:p.Ser428Leu
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 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 tgv265278177 TogoVar
COSMIC
MONDO
Disease area statistics
MGeND
Clinical significance Last evaluated Condition Origin Submission ID Submitter Institute Citation Comment Image
Pathogenic other germline MGS000001
(TMGS000178) 		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
Uncertain significance 2022-06-03 criteria provided, single submitter not provided germline Detail
Likely pathogenic 2023-10-25 criteria provided, single submitter long QT syndrome germline Detail
Uncertain significance 2024-02-02 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
Annotation

Annotations

DescrptionSourceLinks
NM_000238.4(KCNH2):c.1283C>T (p.Ser428Leu) AND Congenital long QT syndrome ClinVar Detail
NM_000238.4(KCNH2):c.1283C>T (p.Ser428Leu) AND not provided ClinVar Detail
NM_000238.4(KCNH2):c.1283C>T (p.Ser428Leu) AND Long QT syndrome ClinVar Detail
NM_000238.4(KCNH2):c.1283C>T (p.Ser428Leu) AND not specified 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
rs199472899 dbSNP
Genome
hg38
Position
chr7:150,952,699-150,952,699
Variant Type
snv
Reference Allele
G
Alternative Allele
A
East Asian Chromosome Counts (ExAC)
8654
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)
121392
Allele Counts in All Race (ExAC)
2
Heterozygous Counts in All Race (ExAC)
2
Homozygous Counts in All Race (ExAC)
0
Allele Frequency in All Race (ExAC)
1.6475550283379465E-5
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