chr7:150648767:C>G Detail (hg19) (KCNH2)

Information

Genome

Assembly Position
hg19 chr7:150,648,767-150,648,767
hg38 chr7:150,951,679-150,951,679 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_000238.3:c.1714G>C NP_000229.1:p.Gly572Arg
NM_172057.2:c.694G>C NP_742054.1:p.Gly232Arg
Ensemble ENST00000262186.10:c.1714G>C ENST00000262186.10:p.Gly572Arg
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance Pathogenic
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
Pathogenic 2000-02-01 no assertion criteria provided long QT syndrome 2 germline Detail
not provided no assertion provided Congenital long QT syndrome 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
0.417 long QT syndrome The sensitivity of the method was 100% when 34 different point mutations were an... BeFree 10220146 Detail
0.388 long QT syndrome The sensitivity of the method was 100% when 34 different point mutations were an... BeFree 10220146 Detail
<0.001 long QT syndrome The sensitivity of the method was 100% when 34 different point mutations were an... BeFree 10220146 Detail
0.388 long QT syndrome Long QT syndrome with a high mortality rate caused by a novel G572R missense mut... BeFree 10735633 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_000238.4(KCNH2):c.1714G>C (p.Gly572Arg) AND Long QT syndrome 2 ClinVar Detail
NM_000238.4(KCNH2):c.1714G>C (p.Gly572Arg) AND Congenital long QT syndrome ClinVar Detail
NA DisGeNET Detail
NA DisGeNET Detail
The sensitivity of the method was 100% when 34 different point mutations were analyzed, including tw... DisGeNET Detail
The sensitivity of the method was 100% when 34 different point mutations were analyzed, including tw... DisGeNET Detail
The sensitivity of the method was 100% when 34 different point mutations were analyzed, including tw... DisGeNET Detail
Long QT syndrome with a high mortality rate caused by a novel G572R missense mutation in KCNH2. 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
rs9333649 dbSNP
Genome
hg19
Position
chr7:150,648,767-150,648,767
Variant Type
snv
Reference Allele
C
Alternative Allele
G
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