RPS6KB2 ribosomal protein S6 kinase B2
Information
Clinical Significance
MGeND | ClinVar | |
---|---|---|
Likely benign | 0 | 8 |
not provided | 22 | 0 |
Uncertain significance | 0 | 74 |
Ranking
ClinVar | |
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0 |
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0 |
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0 |
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82 |
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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
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 |
Search Word
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 |
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SYNONYM | KLS |
SYNONYM | P70-beta |
SYNONYM | P70-beta-1 |
SYNONYM | P70-beta-2 |
SYNONYM | S6K-beta2 |
SYNONYM | S6K2 |
SYNONYM | S6KB |
SYNONYM | S6KI(2) |
SYNONYM | S6Kbeta |
SYNONYM | SRK |
SYNONYM | STK14B |
SYNONYM | p70(S6K)-beta |
SYNONYM | p70S6Kb |
MIM | 608939 OMIM |
HGNC | HGNC:10437 HGNC |
Ensembl | ENSG00000175634 Ensembl |
AllianceGenome | HGNC:10437 |
Descrption | Source | Links |
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ID | Genome | Chromosome | Start | End | Length |
---|---|---|---|---|---|
ENST00000312629.10 | hg38 | chr11 | 67,428,494 | 67,435,401 | 6,908 |
ENST00000312629.10 | hg19 | chr11 | 67,195,965 | 67,202,872 | 6,908 |
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