RBM3 RNA binding motif protein 3
Clinical Significance
| MGeND | ClinVar | |
|---|---|---|
| not provided | 6 | 0 |
| Uncertain significance | 0 | 10 |
Ranking
| ClinVar | |
|---|---|
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0 |
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0 |
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0 |
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10 |
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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
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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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| 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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| 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 | IS1-RNPL |
| SYNONYM | RNPL |
| MIM | 300027 OMIM |
| HGNC | HGNC:9900 HGNC |
| Ensembl | ENSG00000102317 Ensembl |
| AllianceGenome | HGNC:9900 |
| Descrption | Source | Links |
|---|
| ID | Genome | Chromosome | Start | End | Length |
|---|---|---|---|---|---|
| ENST00000376759.8 | hg38 | chrX | 48,574,484 | 48,581,162 | 6,679 |
| ENST00000376755.1 | hg38 | chrX | 48,574,952 | 48,577,868 | 2,917 |
| ENST00000354480.2 | hg38 | chrX | 48,575,899 | 48,578,291 | 2,393 |
| ENST00000376759.8 | hg19 | chrX | 48,432,872 | 48,439,550 | 6,679 |
| ENST00000376755.1 | hg19 | chrX | 48,433,340 | 48,436,256 | 2,917 |
| ENST00000354480.2 | hg19 | chrX | 48,434,287 | 48,436,679 | 2,393 |
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