SMARCD1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 1
Information
- Symbol
- SMARCD1
- Type
- protein-coding
- Description
- SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 1
- Entrez Gene ID
- 6602
- Genome
- hg19
- Position
- chr12:50,479,125-50,494,490
- Genome
- hg38
- Position
- chr12:50,085,342-50,100,707
- MIM
- 601735 OMIM
- HGNC
- HGNC:11106 HGNC
- Ensembl
- ENSG00000066117 Ensembl
- Links
- NCBI Gene Cards OncoKB
Clinical Significance
| MGeND | ClinVar | |
|---|---|---|
| Pathogenic | 0 | 12 |
| Likely pathogenic | 0 | 2 |
| Benign | 0 | 16 |
| Likely benign | 0 | 14 |
| Conflicting classifications of pathogenicity | 0 | 2 |
| not provided | 6 | 2 |
| Uncertain significance | 0 | 76 |
Ranking
| ClinVar | |
|---|---|
 |
0 |
 |
0 |
 |
12 |
 |
94 |
 |
12 |
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 | BAF60A |
| SYNONYM | CRACD1 |
| SYNONYM | CSS11 |
| SYNONYM | Rsc6p |
| MIM | 601735 OMIM |
| HGNC | HGNC:11106 HGNC |
| Ensembl | ENSG00000066117 Ensembl |
| AllianceGenome | HGNC:11106 |
| Descrption | Source | Links |
|---|
| ID | Genome | Chromosome | Start | End | Length |
|---|---|---|---|---|---|
| ENST00000394963.9 | hg38 | chr12 | 50,085,342 | 50,100,707 | 15,366 |
| ENST00000381513.8 | hg38 | chr12 | 50,085,200 | 50,100,642 | 15,443 |
| ENST00000548573.5 | hg38 | chr12 | 50,088,235 | 50,100,149 | 11,915 |
| ENST00000381513.8 | hg19 | chr12 | 50,478,983 | 50,494,425 | 15,443 |
| ENST00000394963.9 | hg19 | chr12 | 50,479,125 | 50,494,490 | 15,366 |
| ENST00000548573.5 | hg19 | chr12 | 50,482,018 | 50,493,932 | 11,915 |
| Key | Value |
|---|---|
| strand | + |
| start | 50,478,982 |
| Gene Symbol | SMARCD1 |
| Entrez GeneId | 6,602 |
| Chr Band | 12q13-q14 |
| end | 50,494,493 |
| chr | chr12 |
| Name | SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 1 |
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