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Gene entry

SMARCA4

SWI/SNF related BAF chromatin remodeling complex subunit ATPase 4

Chromosome
19
Cytoband
19p13.2
Variants (rsID)
41

SMARCA4 is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 19 (region 19p13.2). Its official name is “SWI/SNF related BAF chromatin remodeling complex subunit ATPase 4”. The reference table lists 41 variants (rsID) for this gene.

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Clinically classified variants

20 reference-table entries with clinical significance.

  • rs140192268Benignsingle nucleotide variantRhabdoid tumor predisposition syndrome 2|Coffin-Siris syndrome|Hereditary cancer-predisposing syndrome|Intellectual disability, autosomal dominant 16
  • rs28997581Benignsingle nucleotide variantCoffin-Siris syndrome|Rhabdoid tumor predisposition syndrome 2|Hereditary cancer-predisposing syndrome|Intellectual disability, autosomal dominant 16
  • rs372379166Benignsingle nucleotide variantRhabdoid tumor predisposition syndrome 2|Coffin-Siris syndrome|Hereditary cancer-predisposing syndrome|Intellectual disability, autosomal dominant 16
  • rs372931195Benignsingle nucleotide variantRhabdoid tumor predisposition syndrome 2|Coffin-Siris syndrome|Hereditary cancer-predisposing syndrome|Intellectual disability, autosomal dominant 16
  • rs547268941Benignsingle nucleotide variantRhabdoid tumor predisposition syndrome 2|Coffin-Siris syndrome|Hereditary cancer-predisposing syndrome|Intellectual disability, autosomal dominant 16
  • rs62639303Benignsingle nucleotide variantRhabdoid tumor predisposition syndrome 2|Hereditary cancer-predisposing syndrome|Coffin-Siris syndrome|Intellectual disability, autosomal dominant 16
  • rs767575401Benignsingle nucleotide variantCoffin-Siris syndrome|Rhabdoid tumor predisposition syndrome 2|Intellectual disability, autosomal dominant 16
  • rs7935Benignsingle nucleotide variantCoffin-Siris syndrome|Hereditary cancer-predisposing syndrome|Rhabdoid tumor predisposition syndrome 2|Intellectual disability, autosomal dominant 16
  • rs138689221Conflicting interpretationssingle nucleotide variantRhabdoid tumor predisposition syndrome 2|Coffin-Siris syndrome|Hereditary cancer-predisposing syndrome|Intellectual disability, autosomal dominant 16
  • rs141806282Conflicting interpretationssingle nucleotide variantRhabdoid tumor predisposition syndrome 2|Coffin-Siris syndrome|Hereditary cancer-predisposing syndrome|Intellectual disability, autosomal dominant 16
  • rs148530368Conflicting interpretationssingle nucleotide variantRhabdoid tumor predisposition syndrome 2|Coffin-Siris syndrome|Hereditary cancer-predisposing syndrome|Intellectual disability, autosomal dominant 16
  • rs149874634Conflicting interpretationssingle nucleotide variantRhabdoid tumor predisposition syndrome 2|Hereditary cancer-predisposing syndrome|Intellectual disability, autosomal dominant 16
  • rs370782232Conflicting interpretationssingle nucleotide variantRhabdoid tumor predisposition syndrome 2|Intellectual disability, autosomal dominant 16|Hereditary cancer-predisposing syndrome
  • rs372410282Conflicting interpretationssingle nucleotide variantRhabdoid tumor predisposition syndrome 2|Hereditary cancer-predisposing syndrome|Coffin-Siris syndrome|Intellectual disability, autosomal dominant 16
  • rs372620534Conflicting interpretationssingle nucleotide variantRhabdoid tumor predisposition syndrome 2|Coffin-Siris syndrome|Hereditary cancer-predisposing syndrome|Intellectual disability, autosomal dominant 16
  • rs533671711Conflicting interpretationssingle nucleotide variantRhabdoid tumor predisposition syndrome 2|Coffin-Siris syndrome|Hereditary cancer-predisposing syndrome|Intellectual disability, autosomal dominant 16
  • rs751936459Conflicting interpretationsDeletionRhabdoid tumor predisposition syndrome 2|Intellectual disability, autosomal dominant 16
  • rs775610559Conflicting interpretationssingle nucleotide variantCoffin-Siris syndrome|Rhabdoid tumor predisposition syndrome 2|Hereditary cancer-predisposing syndrome|Intellectual disability, autosomal dominant 16
  • rs797045983Conflicting interpretationssingle nucleotide variantRhabdoid tumor predisposition syndrome 2|Hereditary cancer-predisposing syndrome|Intellectual disability, autosomal dominant 16
  • rs281875227Pathogenicsingle nucleotide variantIntellectual disability, autosomal dominant 16|Inborn genetic diseases

Other listed variants

Public references

Data from the institutional reference table and public NCBI annotation. For education only; not a substitute for medical or genetic counselling.