SMARCA1 Chromosome X
SNF2 related chromatin remodeling ATPase 1
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What This Gene Does
This gene encodes a member of the SWI/SNF family of proteins. The encoded protein is an ATPase which is expressed in diverse tissues and contributes to the chromatin remodeling complex that is involved in transcription. The protein may also play a role in DNA damage, growth inhibition and apoptosis of cancer cells. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2013]
Gene Info
Gene Group
"Myb/SANT domain containing|SNF2 related family|NURF complex|CERF complex"
Locus Type
gene with protein product
Location
Xq25-q26.1
Ensembl
ENSG00000102038
Associated Conditions (3)
Neurodevelopmental disorder
Abnormal brain morphology
Non-syndromic X-linked intellectual disability
Key Variants
RS140388140
Conflicting classifications of pathogenicity
Health Risk
RS1934884804
Conflicting classifications of pathogenicity
Neurodevelopmental disorder, Neurodevelopmental disorder
Health Risk
RS1060499736
Likely pathogenic
Abnormal brain morphology, Abnormal brain morphology
Health Risk
RS2521753491
Likely pathogenic
Non-syndromic X-linked intellectual disability, Non-syndromic X-linked intellectual disability
Health Risk
RS2521764639
Likely pathogenic
Non-syndromic X-linked intellectual disability, Non-syndromic X-linked intellectual disability
Health Risk
All Variants (5)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS140388140 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS1934884804 | Health Risk | Conflicting classifications of pathogenicity | Neurodevelopmental disorder, Neurodevelopmental disorder |
| RS1060499736 | Health Risk | Likely pathogenic | Abnormal brain morphology, Abnormal brain morphology |
| RS2521753491 | Health Risk | Likely pathogenic | Non-syndromic X-linked intellectual disability, Non-syndromic X-linked intellectual disability |
| RS2521764639 | Health Risk | Likely pathogenic | Non-syndromic X-linked intellectual disability, Non-syndromic X-linked intellectual disability |