RPS27L ribosomal protein S27 like
Information
Clinical Significance
MGeND | ClinVar | |
---|---|---|
Uncertain significance | 0 | 2 |
Ranking
ClinVar | |
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0 |
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0 |
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0 |
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2 |
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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
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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MIM | 612055 OMIM |
HGNC | HGNC:18476 HGNC |
Ensembl | ENSG00000185088 Ensembl |
AllianceGenome | HGNC:18476 |
Descrption | Source | Links |
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ID | Genome | Chromosome | Start | End | Length |
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ENST00000439025.1 | hg38 | chr15 | 63,154,971 | 63,157,499 | 2,529 |
ENST00000462430.5 | hg38 | chr15 | 63,153,853 | 63,156,774 | 2,922 |
ENST00000635699.1 | hg38 | chr15 | 63,153,853 | 63,157,477 | 3,625 |
ENST00000330964.10 | hg38 | chr15 | 63,148,249 | 63,157,477 | 9,229 |
ENST00000455271.5 | hg38 | chr15 | 63,153,853 | 63,157,281 | 3,429 |
ENST00000411926.1 | hg38 | chr15 | 63,153,859 | 63,158,021 | 4,163 |
ENST00000330964.10 | hg19 | chr15 | 63,440,448 | 63,449,676 | 9,229 |
ENST00000462430.5 | hg19 | chr15 | 63,446,052 | 63,448,973 | 2,922 |
ENST00000455271.5 | hg19 | chr15 | 63,446,052 | 63,449,480 | 3,429 |
ENST00000635699.1 | hg19 | chr15 | 63,446,052 | 63,449,676 | 3,625 |
ENST00000411926.1 | hg19 | chr15 | 63,446,058 | 63,450,220 | 4,163 |
ENST00000439025.1 | hg19 | chr15 | 63,447,170 | 63,449,698 | 2,529 |
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