chr19:45412358:C>G Detail (hg19) (APOE)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr19:45,412,358-45,412,358 |
| hg38 | chr19:44,909,101-44,909,101 View the variant detail on this assembly version. |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_000041.3:c.805C>G | NP_000032.1:p.Arg269Gly |
| NM_001302688.1:c.805C>G | NP_001289617.1:p.Arg269Gly | |
| NM_001302689.1:c.805C>G | NP_001289618.1:p.Arg269Gly |
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
|
2023-06-01 | criteria provided, multiple submitters, no conflicts | not provided |
germline
|
Detail |
|
Uncertain significance
|
2022-04-23 | criteria provided, single submitter | Sea-blue histiocyte syndrome,Alzheimer disease 4,age related macular degeneration 1,Lipoprotein glomerulopathy,Alzheimer disease 3,Familial type 3 hyperlipoproteinemia,Alzheimer disease 2 |
unknown
|
Detail |
|
Uncertain significance
|
2022-04-23 | criteria provided, single submitter | Sea-blue histiocyte syndrome,Alzheimer disease 4,age related macular degeneration 1,Lipoprotein glomerulopathy,Alzheimer disease 3,Familial type 3 hyperlipoproteinemia,Alzheimer disease 2 |
unknown
|
Detail |
|
Uncertain significance
|
2022-04-23 | criteria provided, single submitter | Sea-blue histiocyte syndrome,Alzheimer disease 4,age related macular degeneration 1,Lipoprotein glomerulopathy,Alzheimer disease 3,Familial type 3 hyperlipoproteinemia,Alzheimer disease 2 |
unknown
|
Detail |
|
Uncertain significance
|
2022-04-23 | criteria provided, single submitter | Sea-blue histiocyte syndrome,Alzheimer disease 4,age related macular degeneration 1,Lipoprotein glomerulopathy,Alzheimer disease 3,Familial type 3 hyperlipoproteinemia,Alzheimer disease 2 |
unknown
|
Detail |
|
Uncertain significance
|
2022-04-23 | criteria provided, single submitter | Sea-blue histiocyte syndrome,Alzheimer disease 4,age related macular degeneration 1,Lipoprotein glomerulopathy,Alzheimer disease 3,Familial type 3 hyperlipoproteinemia,Alzheimer disease 2 |
unknown
|
Detail |
|
Uncertain significance
|
2022-04-23 | criteria provided, single submitter | Sea-blue histiocyte syndrome,Alzheimer disease 4,age related macular degeneration 1,Lipoprotein glomerulopathy,Alzheimer disease 3,Familial type 3 hyperlipoproteinemia,Alzheimer disease 2 |
unknown
|
Detail |
|
Uncertain significance
|
2022-04-23 | criteria provided, single submitter | Sea-blue histiocyte syndrome,Alzheimer disease 4,age related macular degeneration 1,Lipoprotein glomerulopathy,Alzheimer disease 3,Familial type 3 hyperlipoproteinemia,Alzheimer disease 2 |
unknown
|
Detail |
|
Uncertain significance
|
2022-08-28 | criteria provided, single submitter | Familial type 3 hyperlipoproteinemia |
germline
|
Detail |
|
Uncertain significance
|
2023-09-05 | criteria provided, single submitter |
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.[388T>C;805C>G] AND Familial type 3 hyperlipoproteinemia | ClinVar | Detail |
| NM_000041.4(APOE):c.805C>G (p.Arg269Gly) AND not provided | ClinVar | Detail |
| NM_000041.4(APOE):c.805C>G (p.Arg269Gly) AND multiple conditions | ClinVar | Detail |
| NM_000041.4(APOE):c.805C>G (p.Arg269Gly) AND multiple conditions | ClinVar | Detail |
| NM_000041.4(APOE):c.805C>G (p.Arg269Gly) AND multiple conditions | ClinVar | Detail |
| NM_000041.4(APOE):c.805C>G (p.Arg269Gly) AND multiple conditions | ClinVar | Detail |
| NM_000041.4(APOE):c.805C>G (p.Arg269Gly) AND multiple conditions | ClinVar | Detail |
| NM_000041.4(APOE):c.805C>G (p.Arg269Gly) AND multiple conditions | ClinVar | Detail |
| NM_000041.4(APOE):c.805C>G (p.Arg269Gly) AND multiple conditions | ClinVar | Detail |
| NM_000041.4(APOE):c.805C>G (p.Arg269Gly) AND Familial type 3 hyperlipoproteinemia | ClinVar | Detail |
| NM_000041.4(APOE):c.805C>G (p.Arg269Gly) AND Cardiovascular phenotype | 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
- rs267606661 dbSNP
- Genome
- hg19
- Position
- chr19:45,412,358-45,412,358
- Variant Type
- snv
- Reference Allele
- C
- Alternative Allele
- G
- East Asian Chromosome Counts (ExAC)
- 2226
- 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)
- 37774
- Allele Counts in All Race (ExAC)
- 16
- Heterozygous Counts in All Race (ExAC)
- 16
- Homozygous Counts in All Race (ExAC)
- 0
- Allele Frequency in All Race (ExAC)
- 4.2357176894160004E-4
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