chr19:45412314:T>A Detail (hg19) (APOE)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr19:45,412,314-45,412,314 |
| hg38 | chr19:44,909,057-44,909,057 View the variant detail on this assembly version. |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_000041.3:c.761T>A | NP_000032.1:p.Val254Glu |
| NM_001302688.1:c.761T>A | NP_001289617.1:p.Val254Glu | |
| NM_001302689.1:c.761T>A | NP_001289618.1:p.Val254Glu |
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 |
Uncertain significance
|
| Review star |  |
| Show details | |
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
| Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
|---|---|---|---|---|---|
Pathogenic
|
1993-05-01 | no assertion criteria provided | Familial type 3 hyperlipoproteinemia |
germline
|
Detail |
|
Uncertain significance
|
2022-12-14 | criteria provided, single submitter | not provided |
germline
|
Detail |
Benign
|
no assertion criteria provided | not specified |
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.[526C>T;761T>A] AND Familial type 3 hyperlipoproteinemia | ClinVar | Detail |
| NM_000041.4(APOE):c.761T>A (p.Val254Glu) AND not provided | ClinVar | Detail |
| NM_000041.4(APOE):c.761T>A (p.Val254Glu) AND not specified | 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
- rs199768005 dbSNP
- Genome
- hg19
- Position
- chr19:45,412,314-45,412,314
- Variant Type
- snv
- Reference Allele
- T
- Alternative Allele
- A
- East Asian Chromosome Counts (ExAC)
- 716
- 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)
- 18518
- Allele Counts in All Race (ExAC)
- 25
- Heterozygous Counts in All Race (ExAC)
- 25
- Homozygous Counts in All Race (ExAC)
- 0
- Allele Frequency in All Race (ExAC)
- 0.0013500378010584296
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