chr7:150655537:G>A Detail (hg19) (KCNH2)

Information

Genome

Assembly Position
hg19 chr7:150,655,537-150,655,537
hg38 chr7:150,958,449-150,958,449 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_000238.3:c.526C>T NP_000229.1:p.Arg176Trp
Ensemble ENST00000262186.10:c.526C>T ENST00000262186.10:p.Arg176Trp
ENST00000713701.1:c.226C>T ENST00000713701.1:p.Arg76Trp
Summary

MGeND

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

Frequency

[No Data.]

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
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
Conflicting interpretations of pathogenicity 2024-03-01 criteria provided, conflicting interpretations not provided germline Detail
Conflicting interpretations of pathogenicity 2022-05-31 criteria provided, conflicting interpretations long QT syndrome 2 germline unknown Detail
Conflicting interpretations of pathogenicity 2023-10-31 criteria provided, conflicting interpretations not specified germline Detail
Conflicting interpretations of pathogenicity 2024-01-31 criteria provided, conflicting interpretations long QT syndrome germline paternal Detail
Uncertain significance 2023-05-30 criteria provided, single submitter germline Detail
Uncertain significance 2019-01-21 criteria provided, single submitter Short QT syndrome type 1 unknown Detail
Uncertain significance 2022-04-08 criteria provided, single submitter 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
0.417 long QT syndrome A total of six compound heterozygotes were identified who had the HERG R176W mut... BeFree 16754261 Detail
0.361 long QT syndrome 2 NA CLINVAR Detail
0.388 long QT syndrome NA CLINVAR Detail
0.388 long QT syndrome The HERG R176W mutation represents a population-prevalent mutation predisposing ... BeFree 16754261 Detail
0.361 long QT syndrome 2 Survey of the coding region of the HERG gene in long QT syndrome reveals six nov... UNIPROT 10862094 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_000238.4(KCNH2):c.526C>T (p.Arg176Trp) AND not provided ClinVar Detail
NM_000238.4(KCNH2):c.526C>T (p.Arg176Trp) AND Long QT syndrome 2 ClinVar Detail
NM_000238.4(KCNH2):c.526C>T (p.Arg176Trp) AND not specified ClinVar Detail
NM_000238.4(KCNH2):c.526C>T (p.Arg176Trp) AND Long QT syndrome ClinVar Detail
NM_000238.4(KCNH2):c.526C>T (p.Arg176Trp) AND Cardiovascular phenotype ClinVar Detail
NM_000238.4(KCNH2):c.526C>T (p.Arg176Trp) AND Short QT syndrome type 1 ClinVar Detail
NM_000238.4(KCNH2):c.526C>T (p.Arg176Trp) AND See cases 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
A total of six compound heterozygotes were identified who had the HERG R176W mutation in combination... DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
The HERG R176W mutation represents a population-prevalent mutation predisposing to LQTS. DisGeNET Detail
Survey of the coding region of the HERG gene in long QT syndrome reveals six novel mutations and an ... 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
rs36210422 dbSNP
Genome
hg19
Position
chr7:150,655,537-150,655,537
Variant Type
snv
Reference Allele
G
Alternative Allele
A
Genome browser