chr17:47284587:G>A Detail (hg38) (ITGB3)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr17:45,361,953-45,361,953 View the variant detail on this assembly version. |
| hg38 | chr17:47,284,587-47,284,587 |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_000212.2:c.506G>A | NP_000203.2:p.Arg169Gln |
| Ensemble | ENST00000559488.7:c.506G>A | ENST00000559488.7:p.Arg169Gln |
| ENST00000571680.1:c.506G>A | ENST00000571680.1:p.Arg169Gln |
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
| JP | HGVD:0.010 |
| ToMMo:0.012 | |
| NCBN:[No Data.] | |
| NCBN(Hondo):[No Data.] | |
| NCBN(Ryukyu):[No Data.] | |
| East asia | ExAC:0.004 |
Prediction
ClinVar
| Clinical Significance |
Benign
|
| Review star |  |
| Show details | |
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
| Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
|---|---|---|---|---|---|
|
Benign
|
1992-11-01 | no assertion criteria provided | PEN(a)/PEN(b) ALLOANTIGEN POLYMORPHISM |
germline
|
Detail |
|
Benign
|
2024-01-31 | criteria provided, single submitter | not provided |
germline
|
Detail |
|
Benign
|
2019-08-07 | reviewed by expert panel | Glanzmann thrombasthenia |
germline
|
Detail |
|
Benign
|
2019-04-10 | criteria provided, single submitter | not specified |
germline
|
Detail |
CIViC
[No Data.]
DisGeNET
| Score | Disease name | Description | Source | Pubmed | Links |
|---|---|---|---|---|---|
| 0.120 | Posttransfusion purpura | NA | CLINVAR | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NM_000212.3(ITGB3):c.506G>A (p.Arg169Gln) AND PEN(a)/PEN(b) ALLOANTIGEN POLYMORPHISM | ClinVar | Detail |
| NM_000212.3(ITGB3):c.506G>A (p.Arg169Gln) AND not provided | ClinVar | Detail |
| NM_000212.3(ITGB3):c.506G>A (p.Arg169Gln) AND Glanzmann thrombasthenia | ClinVar | Detail |
| NM_000212.3(ITGB3):c.506G>A (p.Arg169Gln) AND not specified | 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
- rs5917 dbSNP
- Genome
- hg38
- Position
- chr17:47,284,587-47,284,587
- Variant Type
- snv
- Reference Allele
- G
- Alternative Allele
- A
- Filtering Status (HGVD)
- PASS
- # of samples (HGVD)
- 1209
- Mean of sample read depth (HGVD)
- 72.87
- Standard deviation of sample read depth (HGVD)
- 38.44
- Number of reference allele (HGVD)
- 2393
- Number of alternative allele (HGVD)
- 25
- Allele Frequency (HGVD)
- 0.01033912324234905
- Gene Symbol (HGVD)
- ITGB3
- 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))
- rs5917
- Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 0.012
- Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 201
- Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 16760
- East Asian Chromosome Counts (ExAC)
- 8654
- East Asian Allele Counts (ExAC)
- 32
- East Asian Heterozygous Counts (ExAC)
- 32
- East Asian Homozygous Counts (ExAC)
- 0
- East Asian Allele Frequency (ExAC)
- 0.0036977120406748326
- Chromosome Counts in All Race (ExAC)
- 121410
- Allele Counts in All Race (ExAC)
- 235
- Heterozygous Counts in All Race (ExAC)
- 231
- Homozygous Counts in All Race (ExAC)
- 2
- Allele Frequency in All Race (ExAC)
- 0.0019355901490816243
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