IL17RA interleukin 17 receptor A
Clinical Significance
MGeND | ClinVar | |
---|---|---|
Pathogenic | 24 | 28 |
Likely pathogenic | 0 | 12 |
Benign | 0 | 152 |
Likely benign | 0 | 570 |
Conflicting classifications of pathogenicity | 0 | 72 |
Uncertain significance | 0 | 954 |
Ranking
ClinVar | |
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0 |
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0 |
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188 |
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1,512 |
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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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Variant name | Gene | AA change | CDS | Japanese frequency |
TogoVar | MGeND | Genome | ClinVar | CIViC evidence | DisGeNET entry | COSMIC occurrence |
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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 | CANDF5 |
SYNONYM | CD217 |
SYNONYM | CDw217 |
SYNONYM | IL-17RA |
SYNONYM | IL17R |
SYNONYM | IMD51 |
SYNONYM | hIL-17R |
MIM | 605461 OMIM |
HGNC | HGNC:5985 HGNC |
Ensembl | ENSG00000177663 Ensembl |
AllianceGenome | HGNC:5985 |
Descrption | Source | Links |
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ID | Genome | Chromosome | Start | End | Length |
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ENST00000612619.2 | hg38 | chr22 | 17,085,092 | 17,109,820 | 24,729 |
ENST00000319363.11 | hg38 | chr22 | 17,085,000 | 17,115,693 | 30,694 |
ENST00000319363.11 | hg19 | chr22 | 17,565,890 | 17,596,583 | 30,694 |
ENST00000612619.2 | hg19 | chr22 | 17,565,982 | 17,590,710 | 24,729 |
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