ITGB2 integrin subunit beta 2
Clinical Significance
MGeND | ClinVar | |
---|---|---|
Pathogenic | 10 | 112 |
Likely pathogenic | 0 | 48 |
Benign | 0 | 174 |
Likely benign | 0 | 572 |
Conflicting classifications of pathogenicity | 0 | 80 |
not provided | 1 | 4 |
Uncertain significance | 4 | 614 |
Ranking
ClinVar | |
---|---|
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0 |
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0 |
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245 |
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1,199 |
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36 |
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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Target data | : |
MGeND data only
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Variant name | Gene | AA change | CDS | Japanese frequency |
TogoVar | MGeND | Genome | ClinVar | CIViC evidence | DisGeNET entry | COSMIC occurrence |
Prediction | |||||
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Entry | Origin | Type | Annotation | Entry | Origin | Annotation |
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Target data | : |
MGeND data only
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Name | MGeND | Type | Genome | Size | Chromosome | Start | Stop | Ref | Alt | ClinVar | Origin | Entry | CIViC evidence | DisGeNET entry | |||
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Entry | Origin | Type | Annotation |
Search Word
Target data | : |
MGeND data only
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Category | : |
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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 | |||
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Entry | Origin | Type | Annotation |
Type | ID |
---|---|
SYNONYM | CD18 |
SYNONYM | LAD |
SYNONYM | LCAMB |
SYNONYM | LFA-1 |
SYNONYM | MAC-1 |
SYNONYM | MF17 |
SYNONYM | MFI7 |
MIM | 600065 OMIM |
HGNC | HGNC:6155 HGNC |
Ensembl | ENSG00000160255 Ensembl |
AllianceGenome | HGNC:6155 |
Descrption | Source | Links |
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ID | Genome | Chromosome | Start | End | Length |
---|---|---|---|---|---|
ENST00000397857.5 | hg38 | chr21 | 44,885,953 | 44,911,460 | 25,508 |
ENST00000397854.7 | hg38 | chr21 | 44,885,953 | 44,920,855 | 34,903 |
ENST00000397850.6 | hg38 | chr21 | 44,885,953 | 44,928,873 | 42,921 |
ENST00000397852.5 | hg38 | chr21 | 44,885,953 | 44,910,826 | 24,874 |
ENST00000397846.7 | hg38 | chr21 | 44,907,987 | 44,920,896 | 12,910 |
ENST00000652462.1 | hg38 | chr21 | 44,885,953 | 44,920,899 | 34,947 |
ENST00000302347.10 | hg38 | chr21 | 44,885,965 | 44,920,899 | 34,935 |
ENST00000355153.8 | hg38 | chr21 | 44,885,953 | 44,928,838 | 42,886 |
ENST00000397852.5 | hg19 | chr21 | 46,305,868 | 46,330,741 | 24,874 |
ENST00000397857.5 | hg19 | chr21 | 46,305,868 | 46,331,375 | 25,508 |
ENST00000397854.7 | hg19 | chr21 | 46,305,868 | 46,340,770 | 34,903 |
ENST00000355153.8 | hg19 | chr21 | 46,305,868 | 46,348,753 | 42,886 |
ENST00000397850.6 | hg19 | chr21 | 46,305,868 | 46,348,788 | 42,921 |
ENST00000302347.10 | hg19 | chr21 | 46,305,880 | 46,340,814 | 34,935 |
ENST00000397846.7 | hg19 | chr21 | 46,327,902 | 46,340,811 | 12,910 |
ENST00000652462.1 | hg19 | chr21 | 46,305,868 | 46,340,814 | 34,947 |
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