chr19:45412340:G>A Detail (hg19) (APOE)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr19:45,412,340-45,412,340 |
| hg38 | chr19:44,909,083-44,909,083 View the variant detail on this assembly version. |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_000041.3:c.787G>A | NP_000032.1:p.Glu263Lys |
| NM_001302688.1:c.787G>A | NP_001289617.1:p.Glu263Lys | |
| NM_001302689.1:c.787G>A | NP_001289618.1:p.Glu263Lys |
Summary
MGeND
| Clinical significance |
Benign
|
| Variant entry | 0 |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
| JP | HGVD:0.011 |
| ToMMo:0.008 | |
| NCBN:[No Data.] | |
| NCBN(Hondo):[No Data.] | |
| NCBN(Ryukyu):[No Data.] | |
| East asia | ExAC:0.008 |
Prediction
ClinVar
| Clinical Significance | no classification for the single variant |
| Review star |  |
| Show details | |
Disease area statistics
MGeND
| Clinical significance | Last evaluated | Condition | Origin | Submission ID | Submitter | Institute | Citation | Comment | Image |
|---|---|---|---|---|---|---|---|---|---|
|
Benign
|
2018/05/23 | Aged, 100 and over |
germline
|
MGS000013
(TMGS000027) |
Hiroshi Mori | Osaka City University |
ClinVar
| Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
|---|---|---|---|---|---|
Pathogenic
|
1995-08-01 | no assertion criteria provided | HYPERLIPOPROTEINEMIA, TYPE III, AND ATHEROSCLEROSIS ASSOCIATED WITH APOE7 |
germline
|
Detail |
CIViC
[No Data.]
DisGeNET
| Score | Disease name | Description | Source | Pubmed | Links |
|---|---|---|---|---|---|
| 0.391 | hyperlipoproteinemia type III | NA | CLINVAR | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NM_000041.3(APOE):c.[784G>A;787G>A] AND HYPERLIPOPROTEINEMIA, TYPE III, AND ATHEROSCLEROSIS ASSOCIAT... | ClinVar | 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
- rs190853081 dbSNP
- Genome
- hg19
- Position
- chr19:45,412,340-45,412,340
- Variant Type
- snv
- Reference Allele
- G
- Alternative Allele
- A
- Filtering Status (HGVD)
- PASS
- # of samples (HGVD)
- 1177
- Mean of sample read depth (HGVD)
- 44.97
- Standard deviation of sample read depth (HGVD)
- 23.15
- Number of reference allele (HGVD)
- 2329
- Number of alternative allele (HGVD)
- 25
- Allele Frequency (HGVD)
- 0.010620220900594732
- Gene Symbol (HGVD)
- APOE
- 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))
- rs190853081
- Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 0.0082
- Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 137
- Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 16746
- East Asian Chromosome Counts (ExAC)
- 1654
- East Asian Allele Counts (ExAC)
- 13
- East Asian Heterozygous Counts (ExAC)
- 13
- East Asian Homozygous Counts (ExAC)
- 0
- East Asian Allele Frequency (ExAC)
- 0.007859733978234583
- Chromosome Counts in All Race (ExAC)
- 30224
- Allele Counts in All Race (ExAC)
- 13
- Heterozygous Counts in All Race (ExAC)
- 13
- Homozygous Counts in All Race (ExAC)
- 0
- Allele Frequency in All Race (ExAC)
- 4.301217575436739E-4
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