chr7:150671913:T>G Detail (hg19) (KCNH2)

Information

Genome

Assembly Position
hg19 chr7:150,671,913-150,671,913
hg38 chr7:150,974,825-150,974,825 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_000238.3:c.193A>C NP_000229.1:p.Thr65Pro
Ensemble ENST00000262186.10:c.193A>C ENST00000262186.10:p.Thr65Pro
ENST00000713710.1:c.193A>C ENST00000713710.1:p.Thr65Pro
Summary

MGeND

Clinical significance Pathogenic
Variant entry 1
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
MGeND
Clinical significance Last evaluated Condition Origin Submission ID Submitter Institute Citation Comment Image
Pathogenic other specified conduction disorders germline MGS000037
(TMGS000089) 		Mariko Shiba
Naomasa Makita		 National Cerebral and Cardiovascular Center
National Cerebral and Cardiovascular Center Research Institute		 15840476
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Pathogenic 2002-12-13 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
0.388 long QT syndrome A novel mutation (T65P) in the PAS domain of the human potassium channel HERG re... BeFree 12354768 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_000238.4(KCNH2):c.193A>C (p.Thr65Pro) AND Long QT syndrome 2 ClinVar Detail
NM_000238.4(KCNH2):c.193A>C (p.Thr65Pro) AND Congenital long QT syndrome ClinVar Detail
NA DisGeNET Detail
NA DisGeNET Detail
A novel mutation (T65P) in the PAS domain of the human potassium channel HERG results in the long QT... 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
rs121912511 dbSNP
Genome
hg19
Position
chr7:150,671,913-150,671,913
Variant Type
snv
Reference Allele
T
Alternative Allele
G
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