chr7:150648799:G>A Detail (hg19) (KCNH2)
Information
Genome
Assembly | Position |
---|---|
hg19 | chr7:150,648,799-150,648,799 |
hg38 | chr7:150,951,711-150,951,711 View the variant detail on this assembly version. |
HGVS
Type | Transcript | Protein |
---|---|---|
RefSeq | NM_000238.3:c.1682C>T | NP_000229.1:p.Ala561Val |
NM_172057.2:c.662C>T | NP_742054.1:p.Ala221Val | |
Ensemble | ENST00000262186.10:c.1682C>T | ENST00000262186.10:p.Ala561Val |
Summary
MGeND
Clinical significance |
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Variant entry | 3 |
GWAS entry | |
Disease area statistics | Show details |
Frequency
[No Data.]
Prediction
ClinVar
Clinical Significance |
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Review star | ![]() |
Show details |
Disease area statistics
MGeND
Clinical significance | Last evaluated | Condition | Origin | Submission ID | Submitter | Institute | Citation | Comment | Image |
---|---|---|---|---|---|---|---|---|---|
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other |
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MGS000001
(TMGS000154) |
Kenjiro Kosaki | Keio University | ||||
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other |
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MGS000001
(TMGS000174) |
Kenjiro Kosaki | Keio University |
ClinVar
Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
---|---|---|---|---|---|
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2000-04-14 | no assertion criteria provided | long QT syndrome 2 |
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Detail |
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no assertion provided | Congenital long QT syndrome |
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Detail | |
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2021-12-17 | criteria provided, single submitter | not provided |
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Detail |
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2023-12-28 | criteria provided, single submitter | long QT syndrome |
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Detail |
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2022-05-03 | criteria provided, single submitter |
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Detail | |
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2017-01-01 | criteria provided, single submitter | obesity |
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Detail |
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2023-12-04 | criteria provided, single submitter | Cardiac arrhythmia |
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Detail |
CIViC
[No Data.]
DisGeNET
Score | Disease name | Description | Source | Pubmed | Links |
---|---|---|---|---|---|
0.361 | long QT syndrome 2 | We generated LQTS2-specific CMs (A561V missense mutation in KCNH2) from iPSCs us... | BeFree | 24623279 | Detail |
0.132 | Congenital long QT syndrome | NA | CLINVAR | Detail | |
0.361 | long QT syndrome 2 | NA | CLINVAR | Detail |
Annotation
Annotations
Descrption | Source | Links |
---|---|---|
NM_000238.4(KCNH2):c.1682C>T (p.Ala561Val) AND Long QT syndrome 2 | ClinVar | Detail |
NM_000238.4(KCNH2):c.1682C>T (p.Ala561Val) AND Congenital long QT syndrome | ClinVar | Detail |
NM_000238.4(KCNH2):c.1682C>T (p.Ala561Val) AND not provided | ClinVar | Detail |
NM_000238.4(KCNH2):c.1682C>T (p.Ala561Val) AND Long QT syndrome | ClinVar | Detail |
NM_000238.4(KCNH2):c.1682C>T (p.Ala561Val) AND Cardiovascular phenotype | ClinVar | Detail |
NM_000238.4(KCNH2):c.1682C>T (p.Ala561Val) AND multiple conditions | ClinVar | Detail |
NM_000238.4(KCNH2):c.1682C>T (p.Ala561Val) AND Cardiac arrhythmia | ClinVar | Detail |
We generated LQTS2-specific CMs (A561V missense mutation in KCNH2) from iPSCs using the virus-free r... | DisGeNET | Detail |
NA | DisGeNET | Detail |
NA | DisGeNET | Detail |
Overlapped Transcript Coordinates
Gene | Transcript ID | Exon Number | Chromosome | Start | Stop | Type | Amino Mutation | Transcript Position | Links |
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Overlapped Transcript
Gene | Transcript ID | Chromosome | Start | Stop | Links |
---|
- Gene
- -
- dbSNP
- rs121912504 dbSNP
- Genome
- hg19
- Position
- chr7:150,648,799-150,648,799
- Variant Type
- snv
- Reference Allele
- G
- Alternative Allele
- A
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