SMARCB1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1
Information
- Symbol
- SMARCB1
- Type
- protein-coding
- Description
- SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1
- Entrez Gene ID
- 6598
- Genome
- hg19
- Position
- chr22:24,129,150-24,176,692
- Genome
- hg38
- Position
- chr22:23,786,963-23,834,505
- MIM
- 601607 OMIM
- HGNC
- HGNC:11103 HGNC
- Ensembl
- ENSG00000099956 Ensembl
- Links
- NCBI Gene Cards OncoKB
Clinical Significance
| MGeND | ClinVar | |
|---|---|---|
| Pathogenic | 12 | 98 |
| Likely pathogenic | 3 | 56 |
| Benign | 7 | 140 |
| Likely benign | 4 | 856 |
| Conflicting classifications of pathogenicity | 0 | 104 |
| not provided | 319 | 8 |
| other | 1 | 0 |
| Uncertain significance | 11 | 750 |
Ranking
| ClinVar | |
|---|---|
 |
0 |
 |
0 |
 |
518 |
 |
1,322 |
 |
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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| 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
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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 | BAF47 |
| SYNONYM | CSS3 |
| SYNONYM | INI-1 |
| SYNONYM | INI1 |
| SYNONYM | MRD15 |
| SYNONYM | PPP1R144 |
| SYNONYM | RDT |
| SYNONYM | RTPS1 |
| SYNONYM | SNF5 |
| SYNONYM | SNF5L1 |
| SYNONYM | SWNTS1 |
| SYNONYM | Sfh1p |
| SYNONYM | Snr1 |
| SYNONYM | hSNFS |
| MIM | 601607 OMIM |
| HGNC | HGNC:11103 HGNC |
| Ensembl | ENSG00000099956 Ensembl |
| AllianceGenome | HGNC:11103 |
| Descrption | Source | Links |
|---|
| ID | Genome | Chromosome | Start | End | Length |
|---|---|---|---|---|---|
| ENST00000407422.8 | hg38 | chr22 | 23,786,931 | 23,834,540 | 47,610 |
| ENST00000644036.2 | hg38 | chr22 | 23,786,966 | 23,838,009 | 51,044 |
| ENST00000344921.11 | hg38 | chr22 | 23,786,963 | 23,834,505 | 47,543 |
| ENST00000263121.12 | hg38 | chr22 | 23,787,011 | 23,834,501 | 47,491 |
| ENST00000344921.11 | hg19 | chr22 | 24,129,150 | 24,176,692 | 47,543 |
| ENST00000263121.12 | hg19 | chr22 | 24,129,198 | 24,176,688 | 47,491 |
| ENST00000407422.8 | hg19 | chr22 | 24,129,118 | 24,176,727 | 47,610 |
| ENST00000644036.2 | hg19 | chr22 | 24,129,153 | 24,180,196 | 51,044 |
| Key | Value |
|---|---|
| strand | + |
| UniProt | TSG |
| start | 24,129,117 |
| Vogelstein | TSG |
| Gene Symbol | SMARCB1 |
| Entrez GeneId | 6,598 |
| Chr Band | 22q11 |
| end | 24,176,704 |
| chr | chr22 |
| Name | SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1 |
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