chr19:44907807:G>A Detail (hg38) (APOE)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr19:45,411,064-45,411,064 View the variant detail on this assembly version. |
| hg38 | chr19:44,907,807-44,907,807 |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_000041.3:c.91G>A | NP_000032.1:p.Glu31Lys |
| NM_001302688.1:c.91G>A | NP_001289617.1:p.Glu31Lys | |
| NM_001302689.1:c.91G>A | NP_001289618.1:p.Glu31Lys |
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
| JP | HGVD:0.001 |
| ToMMo:<0.001 | |
| NCBN:[No Data.] | |
| NCBN(Hondo):[No Data.] | |
| NCBN(Ryukyu):[No Data.] | |
| East asia | ExAC:<0.001 |
Prediction
ClinVar
| Clinical Significance |
Likely benign
|
| Review star |  |
| Show details | |
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
| Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
|---|---|---|---|---|---|
Pathogenic
|
1992-11-01 | no assertion criteria provided | Familial type 3 hyperlipoproteinemia |
germline
|
Detail |
|
Pathogenic
|
1991-04-01 | no assertion criteria provided |
germline
|
Detail | |
|
Likely benign
|
2019-05-24 | criteria provided, single submitter | not provided |
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.[487C>T;91G>A] AND Familial type 3 hyperlipoproteinemia | ClinVar | Detail |
| NM_000041.4(APOE):c.91G>A (p.Glu31Lys) AND APOE5 VARIANT | ClinVar | Detail |
| NM_000041.4(APOE):c.91G>A (p.Glu31Lys) AND not provided | 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
- rs201672011 dbSNP
- Genome
- hg38
- Position
- chr19:44,907,807-44,907,807
- Variant Type
- snv
- Reference Allele
- G
- Alternative Allele
- A
- Filtering Status (HGVD)
- PASS
- Filtering Status (HGVD)
- LowQual
- # of samples (HGVD)
- 930
- Mean of sample read depth (HGVD)
- 18.85
- Standard deviation of sample read depth (HGVD)
- 15.88
- Number of reference allele (HGVD)
- 1858
- Number of alternative allele (HGVD)
- 2
- Allele Frequency (HGVD)
- 0.001075268817204301
- 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))
- rs201672011
- Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 0.0001
- Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 2
- Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 16760
- East Asian Chromosome Counts (ExAC)
- 8354
- 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)
- 113212
- Allele Counts in All Race (ExAC)
- 18
- Heterozygous Counts in All Race (ExAC)
- 18
- Homozygous Counts in All Race (ExAC)
- 0
- Allele Frequency in All Race (ExAC)
- 1.5899374624598098E-4
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