chr7:150950935:T>C Detail (hg38) (KCNH2)
Information
Genome
Assembly | Position |
---|---|
hg19 | chr7:150,648,023-150,648,023 View the variant detail on this assembly version. |
hg38 | chr7:150,950,935-150,950,935 |
HGVS
Type | Transcript | Protein |
---|---|---|
RefSeq | NM_000238.3:c.2131A>G | NP_000229.1:p.Ile711Val |
NM_172057.2:c.1111A>G | NP_742054.1:p.Ile371Val | |
Ensemble | ENST00000262186.10:c.2131A>G | ENST00000262186.10:p.Ile711Val |
Summary
MGeND
Clinical significance | |
Variant entry | |
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
[No Data.]
MGeND
[No Data.]
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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2023-12-13 | criteria provided, multiple submitters, no conflicts | long QT syndrome |
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Detail |
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2023-05-09 | criteria provided, multiple submitters, no conflicts | not provided |
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Detail |
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2023-03-20 | criteria provided, single submitter | Cardiac arrhythmia |
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Detail |
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2021-07-26 | criteria provided, single submitter |
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Detail |
CIViC
[No Data.]
DisGeNET
Score | Disease name | Description | Source | Pubmed | Links |
---|---|---|---|---|---|
0.132 | Congenital long QT syndrome | NA | CLINVAR | Detail | |
0.388 | long QT syndrome | NA | CLINVAR | Detail |
Annotation
Annotations
Descrption | Source | Links |
---|---|---|
NM_000238.4(KCNH2):c.2131A>G (p.Ile711Val) AND Congenital long QT syndrome | ClinVar | Detail |
NM_000238.4(KCNH2):c.2131A>G (p.Ile711Val) AND Long QT syndrome | ClinVar | Detail |
NM_000238.4(KCNH2):c.2131A>G (p.Ile711Val) AND not provided | ClinVar | Detail |
NM_000238.4(KCNH2):c.2131A>G (p.Ile711Val) AND Cardiac arrhythmia | ClinVar | Detail |
NM_000238.4(KCNH2):c.2131A>G (p.Ile711Val) AND Cardiovascular phenotype | ClinVar | Detail |
NA | 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
- rs199473532 dbSNP
- Genome
- hg38
- Position
- chr7:150,950,935-150,950,935
- Variant Type
- snv
- Reference Allele
- T
- Alternative Allele
- C
- Homozygous Counts in All Race (ExAC)
- 0
- East Asian Chromosome Counts (ExAC)
- 8642
- 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)
- 121100
- Allele Counts in All Race (ExAC)
- 4
- Heterozygous Counts in All Race (ExAC)
- 4
- Allele Frequency in All Race (ExAC)
- 3.3030553261767136E-5
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