ITGB3 integrin subunit beta 3
Clinical Significance
| MGeND | ClinVar | |
|---|---|---|
| Pathogenic | 2 | 192 |
| Likely pathogenic | 0 | 132 |
| Benign | 0 | 118 |
| Likely benign | 0 | 616 |
| association | 0 | 2 |
| Conflicting classifications of pathogenicity | 0 | 8 |
| not provided | 1 | 0 |
| Uncertain significance | 0 | 462 |
Ranking
| ClinVar | |
|---|---|
![]() |
0 |
![]() |
444 |
![]() |
76 |
![]() |
976 |
![]() |
24 |
Frequency
EXAC_EAS
EXAC_EAS
HGVD
HGVD
TOMMO
TOMMO
Gene
Position
EXAC_EAS
EXAC_EAS
HGVD
HGVD
TOMMO
TOMMO
Gene
Position
Disease area statistics
Locus Zoom
Variants
Search Word
| Target data | : |
MGeND data only
|
| Category | : |
|
| Search word | : | |
| Filtering | : |
| Variant name | Gene | AA change | CDS | Japanese frequency |
TogoVar | MGeND | Genome | ClinVar | CIViC evidence | DisGeNET entry | COSMIC occurrence |
Prediction | |||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Entry | Origin | Type | Annotation | Entry | Origin | Annotation | |||||||||||
Search Word
| Target data | : |
MGeND data only
|
| Category | : |
|
| Search word | : | |
| Filtering | : |
| Name | MGeND | Type | Genome | Size | Chromosome | Start | Stop | Ref | Alt | ClinVar | Origin | Entry | CIViC evidence | DisGeNET entry | |||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Entry | Origin | Type | Annotation | ||||||||||||||
Search Word
| Target data | : |
MGeND data only
|
| Category | : |
|
| Search word | : | |
| Filtering | : |
| Name | MGeND | Type | Genome | Gene symbol | Chromosome | Genomic start | Genomic stop | Strand | Ref | Alt | ClinVar | Origin | Entry | CIViC evidence | DisGeNET entry | |||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Entry | Origin | Type | Annotation | |||||||||||||||
| Type | ID |
|---|---|
| SYNONYM | BDPLT16 |
| SYNONYM | BDPLT2 |
| SYNONYM | BDPLT24 |
| SYNONYM | CD61 |
| SYNONYM | GP3A |
| SYNONYM | GPIIIa |
| SYNONYM | GT |
| SYNONYM | GT2 |
| MIM | 173470 OMIM |
| HGNC | HGNC:6156 HGNC |
| Ensembl | ENSG00000259207 Ensembl |
| AllianceGenome | HGNC:6156 |
| Descrption | Source | Links |
|---|
| ID | Genome | Chromosome | Start | End | Length |
|---|---|---|---|---|---|
| ENST00000559488.7 | hg38 | chr17 | 47,253,827 | 47,313,743 | 59,917 |
| ENST00000696963.1 | hg38 | chr17 | 47,253,827 | 47,308,126 | 54,300 |
| ENST00000571680.1 | hg38 | chr17 | 47,253,853 | 47,291,487 | 37,635 |
| ENST00000696963.1 | hg19 | chr17 | 45,331,193 | 45,385,492 | 54,300 |
| ENST00000559488.7 | hg19 | chr17 | 45,331,193 | 45,391,109 | 59,917 |
| ENST00000571680.1 | hg19 | chr17 | 45,331,219 | 45,368,853 | 37,635 |
Genome browser




