MRPL18 mitochondrial ribosomal protein L18
Information
- Symbol
- MRPL18
- Type
- protein-coding
- Description
- mitochondrial ribosomal protein L18
- Entrez Gene ID
- 29074
- Genome
- hg19
- Position
- chr6:160,211,499-160,219,461
- Genome
- hg38
- Position
- chr6:159,790,467-159,798,429
- MIM
- 611831 OMIM
- HGNC
- HGNC:14477 HGNC
- Ensembl
- ENSG00000112110 Ensembl
- Links
- NCBI Gene Cards OncoKB
Clinical Significance
MGeND | ClinVar | |
---|---|---|
Pathogenic | 1 | 0 |
Likely benign | 0 | 2 |
Uncertain significance | 0 | 14 |
Ranking
ClinVar | |
---|---|
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0 |
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0 |
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0 |
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16 |
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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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Category | : |
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Filtering | : |
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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Category | : |
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Search word | : | |
Filtering | : |
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 | |||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
Entry | Origin | Type | Annotation |
Type | ID |
---|---|
SYNONYM | HSPC071 |
SYNONYM | L18mt |
SYNONYM | MRP-L18 |
SYNONYM | uL18m |
MIM | 611831 OMIM |
HGNC | HGNC:14477 HGNC |
Ensembl | ENSG00000112110 Ensembl |
AllianceGenome | HGNC:14477 |
Descrption | Source | Links |
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ID | Genome | Chromosome | Start | End | Length |
---|---|---|---|---|---|
ENST00000367034.5 | hg38 | chr6 | 159,790,467 | 159,798,429 | 7,963 |
ENST00000367034.5 | hg19 | chr6 | 160,211,499 | 160,219,461 | 7,963 |
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