ITGB4 integrin subunit beta 4
Clinical Significance
| MGeND | ClinVar | |
|---|---|---|
| Pathogenic | 4 | 196 |
| Likely pathogenic | 0 | 60 |
| Benign | 0 | 270 |
| Likely benign | 0 | 1,808 |
| Conflicting classifications of pathogenicity | 0 | 214 |
| Uncertain significance | 0 | 548 |
Ranking
| ClinVar | |
|---|---|
 |
0 |
 |
0 |
 |
334 |
 |
2,446 |
 |
30 |
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
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| 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 | |||||||||||
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| 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
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| 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 | CD104 |
| SYNONYM | GP150 |
| SYNONYM | JEB5A |
| SYNONYM | JEB5B |
| MIM | 147557 OMIM |
| HGNC | HGNC:6158 HGNC |
| Ensembl | ENSG00000132470 Ensembl |
| AllianceGenome | HGNC:6158 |
| Descrption | Source | Links |
|---|
| ID | Genome | Chromosome | Start | End | Length |
|---|---|---|---|---|---|
| ENST00000450894.7 | hg38 | chr17 | 75,721,497 | 75,757,815 | 36,319 |
| ENST00000579662.5 | hg38 | chr17 | 75,721,328 | 75,757,604 | 36,277 |
| ENST00000200181.8 | hg38 | chr17 | 75,721,459 | 75,757,818 | 36,360 |
| ENST00000449880.7 | hg38 | chr17 | 75,721,459 | 75,757,818 | 36,360 |
| ENST00000579662.5 | hg19 | chr17 | 73,717,408 | 73,753,685 | 36,278 |
| ENST00000200181.8 | hg19 | chr17 | 73,717,539 | 73,753,899 | 36,361 |
| ENST00000449880.7 | hg19 | chr17 | 73,717,539 | 73,753,899 | 36,361 |
| ENST00000450894.7 | hg19 | chr17 | 73,717,577 | 73,753,896 | 36,320 |
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