chr7:150648826:A>G Detail (hg19) (KCNH2)
Information
Genome
Assembly | Position |
---|---|
hg19 | chr7:150,648,826-150,648,826 |
hg38 | chr7:150,951,738-150,951,738 View the variant detail on this assembly version. |
HGVS
Type | Transcript | Protein |
---|---|---|
RefSeq | NM_000238.3:c.1655T>C | NP_000229.1:p.Leu552Ser |
NM_172057.2:c.635T>C | NP_742054.1:p.Leu212Ser | |
Ensemble | ENST00000262186.10:c.1655T>C | ENST00000262186.10:p.Leu552Ser |
Summary
MGeND
Clinical significance |
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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 |
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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 |
ClinVar
Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
---|---|---|---|---|---|
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no assertion provided | Congenital long QT syndrome |
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Detail | |
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2018-07-27 | criteria provided, multiple submitters, no conflicts | long QT syndrome 2 |
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Detail |
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2023-09-29 | criteria provided, single submitter | not provided |
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Detail |
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2022-05-27 | criteria provided, single submitter |
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Detail | |
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2024-01-08 | criteria provided, multiple submitters, no conflicts | long QT syndrome |
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Detail |
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2023-08-11 | criteria provided, single submitter | Cardiac arrhythmia |
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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 |
0.132 | Congenital long QT syndrome | NA | CLINVAR | Detail |
Annotation
Annotations
Descrption | Source | Links |
---|---|---|
NM_000238.4(KCNH2):c.1655T>C (p.Leu552Ser) AND Congenital long QT syndrome | ClinVar | Detail |
NM_000238.4(KCNH2):c.1655T>C (p.Leu552Ser) AND Long QT syndrome 2 | ClinVar | Detail |
NM_000238.4(KCNH2):c.1655T>C (p.Leu552Ser) AND not provided | ClinVar | Detail |
NM_000238.4(KCNH2):c.1655T>C (p.Leu552Ser) AND Cardiovascular phenotype | ClinVar | Detail |
NM_000238.4(KCNH2):c.1655T>C (p.Leu552Ser) AND Long QT syndrome | ClinVar | Detail |
NM_000238.4(KCNH2):c.1655T>C (p.Leu552Ser) AND Cardiac arrhythmia | 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 |
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
- rs199472918 dbSNP
- Genome
- hg19
- Position
- chr7:150,648,826-150,648,826
- Variant Type
- snv
- Reference Allele
- A
- Alternative Allele
- G
- East Asian Chromosome Counts (ExAC)
- 8630
- 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)
- 120494
- Allele Counts in All Race (ExAC)
- 5
- Heterozygous Counts in All Race (ExAC)
- 5
- Homozygous Counts in All Race (ExAC)
- 0
- Allele Frequency in All Race (ExAC)
- 4.1495842116619915E-5
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