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
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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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 |
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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 | |||
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Entry | Origin | Type | Annotation |
Type | ID |
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SYNONYM | AMYLD6 |
SYNONYM | IMD43 |
SYNONYM | MHC1D4 |
MIM | 109700 OMIM |
HGNC | HGNC:914 HGNC |
Ensembl | ENSG00000166710 Ensembl |
AllianceGenome | HGNC:914 |
Descrption | Source | Links |
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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 |
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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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