RIOK2 RIO kinase 2
Clinical Significance
MGeND | ClinVar | |
---|---|---|
Benign | 0 | 8 |
Likely benign | 0 | 2 |
Uncertain significance | 0 | 44 |
Ranking
ClinVar | |
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0 |
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0 |
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0 |
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54 |
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0 |
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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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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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 | RIO2 |
MIM | 617754 OMIM |
HGNC | HGNC:18999 HGNC |
Ensembl | ENSG00000058729 Ensembl |
AllianceGenome | HGNC:18999 |
Descrption | Source | Links |
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ID | Genome | Chromosome | Start | End | Length |
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ENST00000283109.8 | hg38 | chr5 | 97,160,867 | 97,183,247 | 22,381 |
ENST00000508447.1 | hg38 | chr5 | 97,166,746 | 97,183,222 | 16,477 |
ENST00000283109.8 | hg19 | chr5 | 96,496,571 | 96,518,951 | 22,381 |
ENST00000508447.1 | hg19 | chr5 | 96,502,450 | 96,518,926 | 16,477 |
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