RPL23 ribosomal protein L23
Clinical Significance
MGeND | ClinVar | |
---|---|---|
Benign | 0 | 4 |
Likely benign | 0 | 34 |
Conflicting classifications of pathogenicity | 0 | 2 |
Uncertain significance | 0 | 22 |
Ranking
ClinVar | |
---|---|
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0 |
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0 |
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2 |
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58 |
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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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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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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 |
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Target data | : |
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 | L23 |
SYNONYM | rpL17 |
SYNONYM | uL14 |
MIM | 603662 OMIM |
HGNC | HGNC:10316 HGNC |
Ensembl | ENSG00000125691 Ensembl |
AllianceGenome | HGNC:10316 |
Descrption | Source | Links |
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ID | Genome | Chromosome | Start | End | Length |
---|---|---|---|---|---|
ENST00000577407.5 | hg38 | chr17 | 38,850,114 | 38,853,737 | 3,624 |
ENST00000479035.7 | hg38 | chr17 | 38,847,860 | 38,853,721 | 5,862 |
ENST00000394332.5 | hg38 | chr17 | 38,847,865 | 38,853,722 | 5,858 |
ENST00000394333.5 | hg38 | chr17 | 38,847,865 | 38,853,735 | 5,871 |
ENST00000245857.9 | hg38 | chr17 | 38,850,081 | 38,853,428 | 3,348 |
ENST00000479035.7 | hg19 | chr17 | 37,004,113 | 37,009,974 | 5,862 |
ENST00000394332.5 | hg19 | chr17 | 37,004,118 | 37,009,975 | 5,858 |
ENST00000394333.5 | hg19 | chr17 | 37,004,118 | 37,009,988 | 5,871 |
ENST00000245857.9 | hg19 | chr17 | 37,006,334 | 37,009,681 | 3,348 |
ENST00000577407.5 | hg19 | chr17 | 37,006,367 | 37,009,990 | 3,624 |
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