MRPS12 mitochondrial ribosomal protein S12
Information
Clinical Significance
MGeND | ClinVar | |
---|---|---|
Likely benign | 0 | 2 |
Uncertain significance | 0 | 18 |
Ranking
ClinVar | |
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0 |
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0 |
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0 |
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20 |
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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 |
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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 |
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 | MPR-S12 |
SYNONYM | MT-RPS12 |
SYNONYM | RPMS12 |
SYNONYM | RPS12 |
SYNONYM | RPSM12 |
SYNONYM | uS12m |
MIM | 603021 OMIM |
HGNC | HGNC:10380 HGNC |
Ensembl | ENSG00000128626 Ensembl |
AllianceGenome | HGNC:10380 |
Descrption | Source | Links |
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ID | Genome | Chromosome | Start | End | Length |
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ENST00000308018.9 | hg38 | chr19 | 38,930,944 | 38,933,168 | 2,225 |
ENST00000407800.2 | hg38 | chr19 | 38,930,954 | 38,933,162 | 2,209 |
ENST00000402029.3 | hg38 | chr19 | 38,930,999 | 38,933,020 | 2,022 |
ENST00000308018.9 | hg19 | chr19 | 39,421,584 | 39,423,808 | 2,225 |
ENST00000407800.2 | hg19 | chr19 | 39,421,594 | 39,423,802 | 2,209 |
ENST00000402029.3 | hg19 | chr19 | 39,421,639 | 39,423,660 | 2,022 |
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