RPL36A ribosomal protein L36a
Clinical Significance
| MGeND | ClinVar | |
|---|---|---|
| Benign | 0 | 2 |
| Likely benign | 0 | 8 |
| not provided | 6 | 0 |
| 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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12 |
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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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| Variant name | Gene | AA change | CDS | Japanese frequency |
TogoVar | MGeND | Genome | ClinVar | CIViC evidence | DisGeNET entry | COSMIC occurrence |
Prediction | |||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Entry | Origin | Type | Annotation | Entry | Origin | Annotation | |||||||||||
Search Word
| Target data | : |
MGeND data only
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| Filtering | : |
| Name | MGeND | Type | Genome | Size | Chromosome | Start | Stop | Ref | Alt | ClinVar | Origin | Entry | CIViC evidence | DisGeNET entry | |||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Entry | Origin | Type | Annotation | ||||||||||||||
Search Word
| Target data | : |
MGeND data only
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| Category | : |
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| 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 | L36A |
| SYNONYM | L44L |
| SYNONYM | MIG6 |
| SYNONYM | RPL44 |
| SYNONYM | eL42 |
| MIM | 300902 OMIM |
| HGNC | HGNC:10359 HGNC |
| Ensembl | ENSG00000241343 Ensembl |
| AllianceGenome | HGNC:10359 |
| Descrption | Source | Links |
|---|
| ID | Genome | Chromosome | Start | End | Length |
|---|---|---|---|---|---|
| ENST00000392994.7 | hg38 | chrX | 101,390,989 | 101,395,793 | 4,805 |
| ENST00000471855.1 | hg38 | chrX | 101,391,202 | 101,395,795 | 4,594 |
| ENST00000614077.4 | hg38 | chrX | 101,390,890 | 101,396,154 | 5,265 |
| ENST00000427805.6 | hg38 | chrX | 101,390,824 | 101,396,117 | 5,294 |
| ENST00000553110.8 | hg38 | chrX | 101,391,011 | 101,396,155 | 5,145 |
| ENST00000427805.6 | hg19 | chrX | 100,645,812 | 100,651,105 | 5,294 |
| ENST00000614077.4 | hg19 | chrX | 100,645,878 | 100,651,142 | 5,265 |
| ENST00000392994.7 | hg19 | chrX | 100,645,977 | 100,650,781 | 4,805 |
| ENST00000553110.8 | hg19 | chrX | 100,645,999 | 100,651,143 | 5,145 |
| ENST00000471855.1 | hg19 | chrX | 100,646,190 | 100,650,783 | 4,594 |
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