RPS6KA6 ribosomal protein S6 kinase A6
Information
Clinical Significance
MGeND | ClinVar | |
---|---|---|
Benign | 0 | 4 |
Likely benign | 0 | 6 |
not provided | 6 | 0 |
Uncertain significance | 0 | 36 |
Ranking
ClinVar | |
---|---|
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0 |
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0 |
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0 |
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46 |
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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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Search word | : | |
Filtering | : |
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 | PP90RSK4 |
SYNONYM | RSK-4 |
SYNONYM | RSK4 |
SYNONYM | S6K-alpha-6 |
SYNONYM | p90RSK6 |
MIM | 300303 OMIM |
HGNC | HGNC:10435 HGNC |
Ensembl | ENSG00000072133 Ensembl |
AllianceGenome | HGNC:10435 |
Descrption | Source | Links |
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ID | Genome | Chromosome | Start | End | Length |
---|---|---|---|---|---|
ENST00000262752.5 | hg38 | chrX | 84,058,350 | 84,188,199 | 129,850 |
ENST00000620340.4 | hg38 | chrX | 84,058,346 | 84,186,141 | 127,796 |
ENST00000620340.4 | hg19 | chrX | 83,313,354 | 83,441,149 | 127,796 |
ENST00000262752.5 | hg19 | chrX | 83,313,358 | 83,443,207 | 129,850 |
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