B2M beta-2-microglobulin
Clinical Significance
| MGeND | ClinVar | |
|---|---|---|
| Pathogenic | 0 | 4 |
| Likely pathogenic | 1 | 12 |
| Benign | 0 | 2 |
| Likely benign | 0 | 46 |
| Conflicting classifications of pathogenicity | 0 | 2 |
| not provided | 7 | 0 |
| Uncertain significance | 0 | 44 |
Ranking
| ClinVar | |
|---|---|
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0 |
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0 |
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8 |
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88 |
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10 |
Frequency
EXAC_EAS
EXAC_EAS
HGVD
HGVD
TOMMO
TOMMO
Gene
Position
EXAC_EAS
EXAC_EAS
HGVD
HGVD
TOMMO
TOMMO
Gene
Position
Disease area statistics
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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 | ||||||||||||||
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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 | AMYLD6 |
| SYNONYM | IMD43 |
| SYNONYM | MHC1D4 |
| MIM | 109700 OMIM |
| HGNC | HGNC:914 HGNC |
| Ensembl | ENSG00000166710 Ensembl |
| AllianceGenome | HGNC:914 |
| Descrption | Source | Links |
|---|
| ID | Genome | Chromosome | Start | End | Length |
|---|---|---|---|---|---|
| ENST00000559916.1 | hg38 | chr15 | 44,711,513 | 44,717,029 | 5,517 |
| ENST00000648006.3 | hg38 | chr15 | 44,711,517 | 44,718,145 | 6,629 |
| ENST00000559916.1 | hg19 | chr15 | 45,003,711 | 45,009,227 | 5,517 |
| ENST00000648006.3 | hg19 | chr15 | 45,003,715 | 45,010,343 | 6,629 |
| Key | Value |
|---|---|
| strand | + |
| start | 45,003,684 |
| Vogelstein | TSG |
| Gene Symbol | B2M |
| Entrez GeneId | 567 |
| Chr Band | 15q21.1 |
| end | 45,010,356 |
| chr | chr15 |
| Name | beta-2-microglobulin |
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