IL6R interleukin 6 receptor
Clinical Significance
MGeND | ClinVar | |
---|---|---|
Pathogenic | 0 | 4 |
Benign | 0 | 48 |
Likely benign | 0 | 226 |
Conflicting classifications of pathogenicity | 0 | 4 |
Uncertain significance | 0 | 224 |
Ranking
ClinVar | |
---|---|
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0 |
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0 |
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44 |
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448 |
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4 |
Frequency
EXAC_EAS
EXAC_EAS
HGVD
HGVD
TOMMO
TOMMO
Gene
Position
EXAC_EAS
EXAC_EAS
HGVD
HGVD
TOMMO
TOMMO
Gene
Position
Disease area statistics
[No Data.]
Locus Zoom
Variants
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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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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 | CD126 |
SYNONYM | HIES5 |
SYNONYM | IL-1Ra |
SYNONYM | IL-6R |
SYNONYM | IL-6R-1 |
SYNONYM | IL-6RA |
SYNONYM | IL6Q |
SYNONYM | IL6QTL |
SYNONYM | IL6RA |
SYNONYM | IL6RQ |
SYNONYM | gp80 |
MIM | 147880 OMIM |
HGNC | HGNC:6019 HGNC |
Ensembl | ENSG00000160712 Ensembl |
AllianceGenome | HGNC:6019 |
Descrption | Source | Links |
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ID | Genome | Chromosome | Start | End | Length |
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ENST00000368485.8 | hg38 | chr1 | 154,405,343 | 154,469,450 | 64,108 |
ENST00000622330.5 | hg38 | chr1 | 154,405,193 | 154,438,084 | 32,892 |
ENST00000344086.8 | hg38 | chr1 | 154,405,223 | 154,466,877 | 61,655 |
ENST00000622330.5 | hg19 | chr1 | 154,377,669 | 154,410,560 | 32,892 |
ENST00000344086.8 | hg19 | chr1 | 154,377,699 | 154,439,353 | 61,655 |
ENST00000368485.8 | hg19 | chr1 | 154,377,819 | 154,441,926 | 64,108 |
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