RBM28 RNA binding motif protein 28
Information
Clinical Significance
MGeND | ClinVar | |
---|---|---|
Pathogenic | 0 | 4 |
Likely pathogenic | 0 | 4 |
Benign | 0 | 18 |
Likely benign | 0 | 52 |
Conflicting classifications of pathogenicity | 0 | 2 |
Uncertain significance | 0 | 74 |
Ranking
ClinVar | |
---|---|
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0 |
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0 |
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16 |
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126 |
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6 |
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 |
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 | |||
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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 | ANES |
SYNONYM | NOP4 |
MIM | 612074 OMIM |
HGNC | HGNC:21863 HGNC |
Ensembl | ENSG00000106344 Ensembl |
AllianceGenome | HGNC:21863 |
Descrption | Source | Links |
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ID | Genome | Chromosome | Start | End | Length |
---|---|---|---|---|---|
ENST00000223073.6 | hg38 | chr7 | 128,297,685 | 128,343,908 | 46,224 |
ENST00000415472.6 | hg38 | chr7 | 128,310,480 | 128,343,870 | 33,391 |
ENST00000223073.6 | hg19 | chr7 | 127,937,738 | 127,983,962 | 46,225 |
ENST00000415472.6 | hg19 | chr7 | 127,950,533 | 127,983,924 | 33,392 |
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