chr21:34449606:G>A Detail (hg38) (KCNE1)
Information
Genome
Assembly | Position |
---|---|
hg19 | chr21:35,821,904-35,821,904 View the variant detail on this assembly version. |
hg38 | chr21:34,449,606-34,449,606 |
HGVS
Type | Transcript | Protein |
---|---|---|
RefSeq | NM_001270402.2:c.29C>T | NP_001257331.1:p.Thr10Met |
NM_001270403.2:c.29C>T | NP_001257332.1:p.Thr10Met | |
NM_000219.5:c.29C>T | NP_000210.2:p.Thr10Met |
Summary
MGeND
Clinical significance | |
Variant entry | |
GWAS entry | |
Disease area statistics | Show details |
Frequency
JP | HGVD:[No Data.] |
ToMMo:<0.001 | |
NCBN:[No Data.] | |
NCBN(Hondo):[No Data.] | |
NCBN(Ryukyu):[No Data.] | |
East asia | ExAC:<0.001 |
Prediction
ClinVar
Clinical Significance | Conflicting classifications of pathogenicity |
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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2024-01-18 | criteria provided, conflicting interpretations | long QT syndrome |
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Detail |
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2015-02-09 | criteria provided, single submitter | not specified |
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Detail |
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2022-04-04 | criteria provided, single submitter |
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Detail | |
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2017-04-27 | criteria provided, single submitter | Jervell and Lange-Nielsen syndrome 2 |
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Detail |
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2021-08-24 | criteria provided, conflicting interpretations | not provided |
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Detail |
CIViC
[No Data.]
DisGeNET
Score | Disease name | Description | Source | Pubmed | Links |
---|---|---|---|---|---|
0.122 | Congenital long QT syndrome | NA | CLINVAR | Detail | |
0.280 | long QT syndrome | NA | CLINVAR | Detail |
Annotation
Annotations
Descrption | Source | Links |
---|---|---|
NM_000219.6(KCNE1):c.29C>T (p.Thr10Met) AND Congenital long QT syndrome | ClinVar | Detail |
NM_000219.6(KCNE1):c.29C>T (p.Thr10Met) AND Long QT syndrome | ClinVar | Detail |
NM_000219.6(KCNE1):c.29C>T (p.Thr10Met) AND not specified | ClinVar | Detail |
NM_000219.6(KCNE1):c.29C>T (p.Thr10Met) AND Cardiovascular phenotype | ClinVar | Detail |
NM_000219.6(KCNE1):c.29C>T (p.Thr10Met) AND Jervell and Lange-Nielsen syndrome 2 | ClinVar | Detail |
NM_000219.6(KCNE1):c.29C>T (p.Thr10Met) AND not provided | 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
- rs144917638 dbSNP
- Genome
- hg38
- Position
- chr21:34,449,606-34,449,606
- Variant Type
- snv
- Reference Allele
- G
- Alternative Allele
- A
- ToMMo VCF FILTER column value (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- PASS
- Total VCF ID column value (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- rs144917638
- Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 0.0002
- Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 4
- Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 16760
- East Asian Chromosome Counts (ExAC)
- 8616
- East Asian Allele Counts (ExAC)
- 1
- East Asian Heterozygous Counts (ExAC)
- 1
- East Asian Homozygous Counts (ExAC)
- 0
- East Asian Allele Frequency (ExAC)
- 1.1606313834726091E-4
- Chromosome Counts in All Race (ExAC)
- 120294
- Allele Counts in All Race (ExAC)
- 23
- Heterozygous Counts in All Race (ExAC)
- 23
- Homozygous Counts in All Race (ExAC)
- 0
- Allele Frequency in All Race (ExAC)
- 1.911982310007149E-4
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