SBDS SBDS ribosome maturation factor
Information
Clinical Significance
| MGeND | ClinVar | |
|---|---|---|
| Pathogenic | 25 | 34 |
| Likely pathogenic | 0 | 46 |
| Benign | 0 | 44 |
| Likely benign | 0 | 28 |
| Conflicting classifications of pathogenicity | 0 | 8 |
| not provided | 0 | 2 |
| Uncertain significance | 11 | 62 |
Ranking
| ClinVar | |
|---|---|
 |
0 |
 |
0 |
 |
48 |
 |
150 |
 |
2 |
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
|
| Category | : |
|
| Search word | : | |
| Filtering | : |
| 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
|
| Category | : |
|
| 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 | CGI-97 |
| SYNONYM | SDO1 |
| SYNONYM | SDS |
| SYNONYM | SWDS |
| MIM | 607444 OMIM |
| HGNC | HGNC:19440 HGNC |
| Ensembl | ENSG00000126524 Ensembl |
| AllianceGenome | HGNC:19440 |
| Descrption | Source | Links |
|---|
| ID | Genome | Chromosome | Start | End | Length |
|---|---|---|---|---|---|
| ENST00000246868.7 | hg38 | chr7 | 66,987,680 | 66,995,586 | 7,907 |
| ENST00000697863.1 | hg38 | chr7 | 66,987,702 | 66,995,586 | 7,885 |
| ENST00000697861.1 | hg38 | chr7 | 66,987,700 | 66,995,533 | 7,834 |
| ENST00000697866.1 | hg38 | chr7 | 66,987,721 | 66,995,586 | 7,866 |
| ENST00000697865.1 | hg38 | chr7 | 66,987,702 | 66,995,693 | 7,992 |
| ENST00000697897.1 | hg38 | chr7 | 66,988,101 | 66,995,693 | 7,593 |
| ENST00000246868.7 | hg19 | chr7 | 66,452,667 | 66,460,573 | 7,907 |
| ENST00000697861.1 | hg19 | chr7 | 66,452,687 | 66,460,520 | 7,834 |
| ENST00000697863.1 | hg19 | chr7 | 66,452,689 | 66,460,573 | 7,885 |
| ENST00000697865.1 | hg19 | chr7 | 66,452,689 | 66,460,680 | 7,992 |
| ENST00000697866.1 | hg19 | chr7 | 66,452,708 | 66,460,573 | 7,866 |
| ENST00000697897.1 | hg19 | chr7 | 66,453,088 | 66,460,680 | 7,593 |
| Key | Value |
|---|---|
| strand | - |
| start | 66,452,689 |
| Gene Symbol | SBDS |
| Entrez GeneId | 51,119 |
| Chr Band | 7q11 |
| end | 66,460,587 |
| chr | chr7 |
| Name | Shwachman-Bodian-Diamond syndrome protein |
Genome browser