RHBDD3 rhomboid domain containing 3
Information
- Symbol
- RHBDD3
- Type
- protein-coding
- Description
- rhomboid domain containing 3
- Entrez Gene ID
- 25807
- Genome
- hg19
- Position
- chr22:29,655,861-29,663,970
- Genome
- hg38
- Position
- chr22:29,259,872-29,267,981
- HGNC
- HGNC:1308 HGNC
- Ensembl
- ENSG00000100263 Ensembl
- Links
- NCBI Gene Cards OncoKB
Clinical Significance
| MGeND | ClinVar | |
|---|---|---|
| Likely benign | 0 | 6 |
| Uncertain significance | 0 | 56 |
Ranking
| ClinVar | |
|---|---|
 |
0 |
 |
0 |
 |
0 |
 |
62 |
 |
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
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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 | C22orf3 |
| SYNONYM | HS984G1A |
| SYNONYM | PTAG |
| HGNC | HGNC:1308 HGNC |
| Ensembl | ENSG00000100263 Ensembl |
| AllianceGenome | HGNC:1308 |
| Descrption | Source | Links |
|---|
| ID | Genome | Chromosome | Start | End | Length |
|---|---|---|---|---|---|
| ENST00000216085.12 | hg38 | chr22 | 29,259,872 | 29,267,981 | 8,110 |
| ENST00000216085.12 | hg19 | chr22 | 29,655,861 | 29,663,970 | 8,110 |
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