RBM14 RNA binding motif protein 14
Information
Clinical Significance
| MGeND | ClinVar | |
|---|---|---|
| Likely benign | 0 | 2 |
| Uncertain significance | 0 | 46 |
Ranking
| ClinVar | |
|---|---|
 |
0 |
 |
0 |
 |
0 |
 |
48 |
 |
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 | |||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 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 | COAA |
| SYNONYM | PSP2 |
| SYNONYM | SIP |
| SYNONYM | SYTIP1 |
| SYNONYM | TMEM137 |
| MIM | 612409 OMIM |
| HGNC | HGNC:14219 HGNC |
| Ensembl | ENSG00000239306 Ensembl |
| AllianceGenome | HGNC:14219 |
| Descrption | Source | Links |
|---|
| ID | Genome | Chromosome | Start | End | Length |
|---|---|---|---|---|---|
| ENST00000409738.4 | hg38 | chr11 | 66,616,715 | 66,626,489 | 9,775 |
| ENST00000393979.3 | hg38 | chr11 | 66,616,626 | 66,627,343 | 10,718 |
| ENST00000310137.5 | hg38 | chr11 | 66,616,630 | 66,629,934 | 13,305 |
| ENST00000409372.1 | hg38 | chr11 | 66,616,630 | 66,624,593 | 7,964 |
| ENST00000443702.1 | hg38 | chr11 | 66,616,646 | 66,624,467 | 7,822 |
| ENST00000393979.3 | hg19 | chr11 | 66,384,097 | 66,394,814 | 10,718 |
| ENST00000409372.1 | hg19 | chr11 | 66,384,101 | 66,392,064 | 7,964 |
| ENST00000310137.5 | hg19 | chr11 | 66,384,101 | 66,397,405 | 13,305 |
| ENST00000443702.1 | hg19 | chr11 | 66,384,117 | 66,391,938 | 7,822 |
| ENST00000409738.4 | hg19 | chr11 | 66,384,186 | 66,393,960 | 9,775 |
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