chr1:53716416:G>T Detail (hg19) (LRP8)
Information
Genome
Assembly | Position |
---|---|
hg19 | chr1:53,716,416-53,716,416 |
hg38 | chr1:53,250,744-53,250,744 View the variant detail on this assembly version. |
HGVS
Type | Transcript | Protein |
---|---|---|
RefSeq | NM_004631.4:c.2622C>A | NP_004622.2:p.Asp874Glu |
NM_033300.3:c.2112C>A | NP_150643.2:p.Asp704Glu | |
NM_017522.4:c.2010C>A | NP_059992.3:p.Asp670Glu |
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 | |
Review star | [No Data.] |
Show details |
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
[No Data.]
CIViC
[No Data.]
DisGeNET
Score | Disease name | Description | Source | Pubmed | Links |
---|---|---|---|---|---|
0.003 | schizophrenia | HIMS replication analysis supported rs439401 (APOE regulatory region), and rs229... | BeFree | 22419519 | Detail |
Annotation
Annotations
Descrption | Source | Links |
---|---|---|
HIMS replication analysis supported rs439401 (APOE regulatory region), and rs2297660 and rs3737983 (... | 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
- -
- Genome
- hg19
- Position
- chr1:53,716,416-53,716,416
- Variant Type
- snv
- Reference Allele
- G
- Alternative Allele
- T
- East Asian Chromosome Counts (ExAC)
- 8646
- 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)
- 121364
- Allele Counts in All Race (ExAC)
- 2
- Heterozygous Counts in All Race (ExAC)
- 2
- Homozygous Counts in All Race (ExAC)
- 0
- Allele Frequency in All Race (ExAC)
- 1.647935137272997E-5
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