RPS18 ribosomal protein S18
Clinical Significance
MGeND | ClinVar |
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Ranking
ClinVar | |
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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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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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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 | D6S218E |
SYNONYM | HKE3 |
SYNONYM | KE-3 |
SYNONYM | KE3 |
SYNONYM | S18 |
SYNONYM | uS13 |
MIM | 180473 OMIM |
HGNC | HGNC:10401 HGNC |
Ensembl | ENSG00000231500 Ensembl |
AllianceGenome | HGNC:10401 |
Descrption | Source | Links |
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ID | Genome | Chromosome | Start | End | Length |
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ENST00000474973.5 | hg38 | chr6 | 33,272,075 | 33,276,510 | 4,436 |
ENST00000439602.7 | hg38 | chr6 | 33,272,075 | 33,276,511 | 4,437 |
ENST00000474973.5 | hg19 | chr6 | 33,239,852 | 33,244,287 | 4,436 |
ENST00000439602.7 | hg19 | chr6 | 33,239,852 | 33,244,288 | 4,437 |
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