SMARCC1 Chromosome 3
SWI/SNF related BAF chromatin remodeling complex subunit C1
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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 contains a predicted leucine zipper motif typical of many transcription factors. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
"Myb/SANT domain containing|BAF complex subunits|PBAF complex subunits|GBAF complex subunits|Small nucleolar RNA protein coding host genes"
Locus Type
gene with protein product
Location
3p21.31
Ensembl
ENSG00000173473
Associated Conditions (8)
Autism spectrum disorder
Inborn genetic diseases
Congenital hydrocephalus
Global developmental delay
Hydrocephalus
congenital
5
susceptibility to
Key Variants
RS761674987
Conflicting classifications of pathogenicity
Autism spectrum disorder, Inborn genetic diseases, Autism spectrum disorder
Health Risk
RS1576408050
Likely pathogenic
Congenital hydrocephalus, Congenital hydrocephalus
Health Risk
RS1576412227
Likely pathogenic
Congenital hydrocephalus, Congenital hydrocephalus
Health Risk
RS1576426439
Likely pathogenic
Congenital hydrocephalus, Congenital hydrocephalus
Health Risk
RS2106685214
Likely pathogenic
Global developmental delay, Global developmental delay
Health Risk
RS2549189964
Likely pathogenic
Hydrocephalus, congenital, 5
Health Risk
RS1576390243
Likely pathogenic; risk factor
Congenital hydrocephalus, Hydrocephalus, congenital
Health Risk
RS1576408057
Likely pathogenic; risk factor
Congenital hydrocephalus, Hydrocephalus, congenital
Health Risk
RS2549178064
risk factor
Hydrocephalus, congenital, 5
Health Risk
RS2549178858
risk factor
Hydrocephalus, congenital, 5
Health Risk
All Variants (10)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS761674987 | Health Risk | Conflicting classifications of pathogenicity | Autism spectrum disorder, Inborn genetic diseases, Autism spectrum disorder |
| RS1576408050 | Health Risk | Likely pathogenic | Congenital hydrocephalus, Congenital hydrocephalus |
| RS1576412227 | Health Risk | Likely pathogenic | Congenital hydrocephalus, Congenital hydrocephalus |
| RS1576426439 | Health Risk | Likely pathogenic | Congenital hydrocephalus, Congenital hydrocephalus |
| RS2106685214 | Health Risk | Likely pathogenic | Global developmental delay, Global developmental delay |
| RS2549189964 | Health Risk | Likely pathogenic | Hydrocephalus, congenital, 5 |
| RS1576390243 | Health Risk | Likely pathogenic; risk factor | Congenital hydrocephalus, Hydrocephalus, congenital |
| RS1576408057 | Health Risk | Likely pathogenic; risk factor | Congenital hydrocephalus, Hydrocephalus, congenital |
| RS2549178064 | Health Risk | risk factor | Hydrocephalus, congenital, 5 |
| RS2549178858 | Health Risk | risk factor | Hydrocephalus, congenital, 5 |