IL2RG interleukin 2 receptor subunit gamma
Information
Clinical Significance
MGeND | ClinVar | |
---|---|---|
Pathogenic | 62 | 180 |
Likely pathogenic | 1 | 112 |
Benign | 0 | 84 |
Likely benign | 0 | 330 |
Conflicting classifications of pathogenicity | 0 | 18 |
not provided | 6 | 0 |
Uncertain significance | 0 | 184 |
Ranking
ClinVar | |
---|---|
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0 |
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58 |
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56 |
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730 |
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24 |
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
Search Word
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 | CD132 |
SYNONYM | CIDX |
SYNONYM | IL-2RG |
SYNONYM | IMD4 |
SYNONYM | P64 |
SYNONYM | SCIDX |
SYNONYM | SCIDX1 |
MIM | 308380 OMIM |
HGNC | HGNC:6010 HGNC |
Ensembl | ENSG00000147168 Ensembl |
AllianceGenome | HGNC:6010 |
Descrption | Source | Links |
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ID | Genome | Chromosome | Start | End | Length |
---|---|---|---|---|---|
ENST00000482750.6 | hg38 | chrX | 71,107,716 | 71,111,590 | 3,875 |
ENST00000374202.7 | hg38 | chrX | 71,107,404 | 71,111,577 | 4,174 |
ENST00000374202.7 | hg19 | chrX | 70,327,254 | 70,331,427 | 4,174 |
ENST00000482750.6 | hg19 | chrX | 70,327,566 | 70,331,440 | 3,875 |
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