chr19:45412048:G>T Detail (hg19) (APOE)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr19:45,412,048-45,412,048 |
| hg38 | chr19:44,908,791-44,908,791 View the variant detail on this assembly version. |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_000041.3:c.495G>T | NP_000032.1:p.Arg165= |
| NM_001302688.1:c.495G>T | NP_001289617.1:p.Arg165= | |
| NM_001302689.1:c.495G>T | NP_001289618.1:p.Arg165= |
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
[No Data.]
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 |
|---|---|---|---|---|---|
|
Likely benign
|
2020-04-22 | criteria provided, single submitter | APOE-related disorder |
germline
|
Detail |
CIViC
[No Data.]
DisGeNET
[No Data.]
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NM_000041.4(APOE):c.495G>T (p.Arg165=) AND APOE-related disorder | 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
- -
- Genome
- hg19
- Position
- chr19:45,412,048-45,412,048
- Variant Type
- snv
- Reference Allele
- G
- Alternative Allele
- T
Genome browser