chr19:10385540:A>G Detail (hg19) (ICAM1)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr19:10,385,540-10,385,540 |
| hg38 | chr19:10,274,864-10,274,864 View the variant detail on this assembly version. |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_000201.2:c.167A>G | NP_000192.2:p.Lys56Arg |
| Ensemble | ENST00000264832.8:c.167A>G | ENST00000264832.8:p.Lys56Arg |
| ENST00000423829.2:c.67+3638A>G |
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 |
|---|---|---|---|---|---|
| 0.136 | Cardiovascular Diseases | The objective of this study was to examine the association of 2 nonsynonymous in... | BeFree | 17962597 | Detail |
| 0.001 | squamous cell carcinoma | ICAM-1 rs5491 and rs281432 may be applied as factors to predict the clinical sta... | BeFree | 24069166 | Detail |
| 0.120 | MALARIA, CEREBRAL, SUSCEPTIBILITY TO (finding) | NA | CLINVAR | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| The objective of this study was to examine the association of 2 nonsynonymous intercellular adhesion... | DisGeNET | Detail |
| ICAM-1 rs5491 and rs281432 may be applied as factors to predict the clinical stage in OSCC patients. | DisGeNET | 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
- -
- Genome
- hg19
- Position
- chr19:10,385,540-10,385,540
- Variant Type
- snv
- Reference Allele
- A
- Alternative Allele
- G
- East Asian Chromosome Counts (ExAC)
- 8648
- 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)
- 121346
- Allele Counts in All Race (ExAC)
- 1
- Heterozygous Counts in All Race (ExAC)
- 1
- Homozygous Counts in All Race (ExAC)
- 0
- Allele Frequency in All Race (ExAC)
- 8.240897928238261E-6
Genome browser