chr19:44907853:T>C Detail (hg38) (APOE)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr19:45,411,110-45,411,110 View the variant detail on this assembly version. |
| hg38 | chr19:44,907,853-44,907,853 |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_000041.3:c.137T>C | NP_000032.1:p.Leu46Pro |
| NM_001302688.1:c.137T>C | NP_001289617.1:p.Leu46Pro | |
| NM_001302689.1:c.137T>C | NP_001289618.1:p.Leu46Pro |
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 | 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 |
|---|---|---|---|---|---|
Pathogenic
|
2017-02-15 | no assertion criteria provided | APOE4(-)-FREIBURG |
germline
|
Detail |
Conflicting interpretations of pathogenicity
|
2023-04-01 | criteria provided, conflicting interpretations | not provided |
germline
|
Detail |
Likely pathogenic
|
2020-05-27 | no assertion criteria provided | familial hypercholesterolemia |
germline
|
Detail |
Uncertain significance
|
2016-01-01 | criteria provided, single submitter | Alzheimer disease 4 |
unknown
|
Detail |
Likely benign
|
2020-07-08 | criteria provided, single submitter |
germline
|
Detail |
CIViC
[No Data.]
DisGeNET
[No Data.]
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NM_000041.3(APOE):c.[137T>C;388T>C] AND APOE4(-)-FREIBURG | ClinVar | Detail |
| NM_000041.4(APOE):c.137T>C (p.Leu46Pro) AND not provided | ClinVar | Detail |
| NM_000041.3(APOE):c.[137T>C;388T>C] AND Familial hypercholesterolemia | ClinVar | Detail |
| NM_000041.4(APOE):c.137T>C (p.Leu46Pro) AND Alzheimer disease 4 | ClinVar | Detail |
| NM_000041.4(APOE):c.137T>C (p.Leu46Pro) AND Cardiovascular phenotype | ClinVar | 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
- rs769452 dbSNP
- Genome
- hg38
- Position
- chr19:44,907,853-44,907,853
- Variant Type
- snv
- Reference Allele
- T
- Alternative Allele
- C
- East Asian Chromosome Counts (ExAC)
- 8572
- 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)
- 118874
- Allele Counts in All Race (ExAC)
- 288
- Heterozygous Counts in All Race (ExAC)
- 284
- Homozygous Counts in All Race (ExAC)
- 2
- Allele Frequency in All Race (ExAC)
- 0.002422733314265525
Genome browser