SMARCD1 Chromosome 12
SWI/SNF related BAF chromatin remodeling complex subunit D1
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What This Gene Does
The protein encoded by this gene is a member of the SWI/SNF family of proteins, whose members display helicase and ATPase activities and which are thought to regulate transcription of certain genes by altering the chromatin structure around those genes. The encoded protein is part of the large ATP-dependent chromatin remodeling complex SNF/SWI and has sequence similarity to the yeast Swp73 protein. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
"BAF complex subunits|PBAF complex subunits|GBAF complex subunits"
Locus Type
gene with protein product
Location
12q13.12
Ensembl
ENSG00000066117
Associated Conditions (5)
See cases
Alopecia
androgenetic
1
Coffin-Siris syndrome 11
Key Variants
RS2539487706
Conflicting classifications of pathogenicity
See cases, See cases
Health Risk
RS1253128772
Likely pathogenic
Alopecia, androgenetic, 1
Health Risk
RS1592289150
Pathogenic
Coffin-Siris syndrome 11, Coffin-Siris syndrome 11
Health Risk
RS1592294569
Pathogenic
Coffin-Siris syndrome 11, Coffin-Siris syndrome 11
Health Risk
RS1592295890
Pathogenic
Coffin-Siris syndrome 11, Coffin-Siris syndrome 11
Health Risk
RS1592295914
Pathogenic
Coffin-Siris syndrome 11, Coffin-Siris syndrome 11
Health Risk
RS2137907876
Pathogenic
Coffin-Siris syndrome 11, Coffin-Siris syndrome 11
Health Risk
RS372368908
Pathogenic
Coffin-Siris syndrome 11, Coffin-Siris syndrome 11
Health Risk
All Variants (8)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS2539487706 | Health Risk | Conflicting classifications of pathogenicity | See cases, See cases |
| RS1253128772 | Health Risk | Likely pathogenic | Alopecia, androgenetic, 1 |
| RS1592289150 | Health Risk | Pathogenic | Coffin-Siris syndrome 11, Coffin-Siris syndrome 11 |
| RS1592294569 | Health Risk | Pathogenic | Coffin-Siris syndrome 11, Coffin-Siris syndrome 11 |
| RS1592295890 | Health Risk | Pathogenic | Coffin-Siris syndrome 11, Coffin-Siris syndrome 11 |
| RS1592295914 | Health Risk | Pathogenic | Coffin-Siris syndrome 11, Coffin-Siris syndrome 11 |
| RS2137907876 | Health Risk | Pathogenic | Coffin-Siris syndrome 11, Coffin-Siris syndrome 11 |
| RS372368908 | Health Risk | Pathogenic | Coffin-Siris syndrome 11, Coffin-Siris syndrome 11 |