RIBC2 RIB43A domain with coiled-coils 2
Information
- Symbol
- RIBC2
- Type
- protein-coding
- Description
- RIB43A domain with coiled-coils 2
- Entrez Gene ID
- 26150
- Genome
- hg19
- Position
- chr22:45,809,574-45,828,389
- Genome
- hg38
- Position
- chr22:45,413,693-45,432,509
- HGNC
- HGNC:13241 HGNC
- Ensembl
- ENSG00000128408 Ensembl
- Links
- NCBI Gene Cards OncoKB
Clinical Significance
MGeND | ClinVar | |
---|---|---|
Benign | 0 | 2 |
Likely benign | 0 | 2 |
not provided | 1 | 0 |
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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18 |
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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 | |||||
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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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Search word | : | |
Filtering | : |
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 | C22orf11 |
SYNONYM | TRIB |
HGNC | HGNC:13241 HGNC |
Ensembl | ENSG00000128408 Ensembl |
AllianceGenome | HGNC:13241 |
Descrption | Source | Links |
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ID | Genome | Chromosome | Start | End | Length |
---|---|---|---|---|---|
ENST00000614167.2 | hg38 | chr22 | 45,413,693 | 45,432,509 | 18,817 |
ENST00000614167.2 | hg19 | chr22 | 45,809,574 | 45,828,389 | 18,816 |
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