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Gene entry

PLCB1

phospholipase C beta 1

Chromosome
20
Cytoband
20p12.3
Variants (rsID)
187

PLCB1 is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 20 (region 20p12.3). Its official name is “phospholipase C beta 1”. The reference table lists 187 variants (rsID) for this gene.

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Clinically classified variants

15 reference-table entries with clinical significance.

  • rs16994453Benignsingle nucleotide variantEarly Infantile Epileptic Encephalopathy, Autosomal Recessive|Seizure|Developmental and epileptic encephalopathy, 12
  • rs2235613Benignsingle nucleotide variantEarly Infantile Epileptic Encephalopathy, Autosomal Recessive|Developmental and epileptic encephalopathy, 12|Seizure
  • rs2295179Benignsingle nucleotide variantDevelopmental and epileptic encephalopathy, 12
  • rs45466294Benignsingle nucleotide variantDevelopmental and epileptic encephalopathy, 12
  • rs708910Benignsingle nucleotide variantEarly Infantile Epileptic Encephalopathy, Autosomal Recessive
  • rs141433824Conflicting interpretationssingle nucleotide variantDevelopmental and epileptic encephalopathy, 12
  • rs145869401Conflicting interpretationssingle nucleotide variantDevelopmental and epileptic encephalopathy, 12
  • rs147567110Conflicting interpretationssingle nucleotide variantDevelopmental and epileptic encephalopathy, 12
  • rs151006778Conflicting interpretationssingle nucleotide variantDevelopmental and epileptic encephalopathy, 12|Seizure
  • rs186429469Conflicting interpretationssingle nucleotide variantSeizure|Developmental and epileptic encephalopathy, 12
  • rs45464693Conflicting interpretationssingle nucleotide variantEarly Infantile Epileptic Encephalopathy, Autosomal Recessive|Seizure|Developmental and epileptic encephalopathy, 12
  • rs45608240Conflicting interpretationssingle nucleotide variantEarly Infantile Epileptic Encephalopathy, Autosomal Recessive|Developmental and epileptic encephalopathy, 12|Seizure
  • rs61755434Conflicting interpretationssingle nucleotide variantEarly Infantile Epileptic Encephalopathy, Autosomal Recessive|Seizure|Developmental and epileptic encephalopathy, 12
  • rs75820839Conflicting interpretationssingle nucleotide variantSeizure|Developmental and epileptic encephalopathy, 12
  • rs41275590Likely benignsingle nucleotide variantEarly Infantile Epileptic Encephalopathy, Autosomal Recessive

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.