RRM2B ribonucleotide reductase regulatory TP53 inducible subunit M2B
Information
- Symbol
- RRM2B
- Type
- protein-coding
- Description
- ribonucleotide reductase regulatory TP53 inducible subunit M2B
- Entrez Gene ID
- 50484
- Genome
- hg19
- Position
- chr8:103,216,730-103,251,189
- Genome
- hg38
- Position
- chr8:102,204,502-102,238,961
- MIM
- 604712 OMIM
- HGNC
- HGNC:17296 HGNC
- Ensembl
- ENSG00000048392 Ensembl
- Links
- NCBI Gene Cards OncoKB
Clinical Significance
| MGeND | ClinVar | |
|---|---|---|
| Pathogenic | 2 | 38 |
| Likely pathogenic | 0 | 36 |
| Benign | 5 | 118 |
| Likely benign | 0 | 180 |
| Conflicting classifications of pathogenicity | 0 | 48 |
| not provided | 0 | 20 |
| Uncertain significance | 0 | 266 |
Ranking
| ClinVar | |
|---|---|
 |
0 |
 |
0 |
 |
102 |
 |
490 |
 |
18 |
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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| Category | : |
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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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| Category | : |
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| Search word | : | |
| 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
|
| Category | : |
|
| Search word | : | |
| 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 | MTDPS8A |
| SYNONYM | MTDPS8B |
| SYNONYM | P53R2 |
| SYNONYM | RCDFRD |
| MIM | 604712 OMIM |
| HGNC | HGNC:17296 HGNC |
| Ensembl | ENSG00000048392 Ensembl |
| AllianceGenome | HGNC:17296 |
| Descrption | Source | Links |
|---|
| ID | Genome | Chromosome | Start | End | Length |
|---|---|---|---|---|---|
| ENST00000519962.5 | hg38 | chr8 | 102,208,133 | 102,238,874 | 30,742 |
| ENST00000519317.5 | hg38 | chr8 | 102,208,133 | 102,238,874 | 30,742 |
| ENST00000251810.8 | hg38 | chr8 | 102,204,502 | 102,238,961 | 34,460 |
| ENST00000395912.6 | hg38 | chr8 | 102,208,133 | 102,238,874 | 30,742 |
| ENST00000251810.8 | hg19 | chr8 | 103,216,730 | 103,251,189 | 34,460 |
| ENST00000519962.5 | hg19 | chr8 | 103,220,361 | 103,251,102 | 30,742 |
| ENST00000519317.5 | hg19 | chr8 | 103,220,361 | 103,251,102 | 30,742 |
| ENST00000395912.6 | hg19 | chr8 | 103,220,361 | 103,251,102 | 30,742 |
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