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Gene entry

PPP2R1A

protein phosphatase 2 scaffold subunit Aalpha

Chromosome
19
Cytoband
19q13.41
Variants (rsID)
15

PPP2R1A is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 19 (region 19q13.41). Its official name is “protein phosphatase 2 scaffold subunit Aalpha”. The reference table lists 15 variants (rsID) for this gene.

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Clinically classified variants

3 reference-table entries with clinical significance.

  • rs786205227Pathogenicsingle nucleotide variantMicrocephaly-corpus callosum hypoplasia-intellectual disability-facial dysmorphism syndrome
  • rs786205228Pathogenicsingle nucleotide variantMicrocephaly-corpus callosum hypoplasia-intellectual disability-facial dysmorphism syndrome|Malignant neoplasm of body of uterus|Uterine carcinosarcoma|PPP2R1A-related neurodevelopmental disorders|Inborn genetic diseases
  • rs863225094Pathogenicsingle nucleotide variantMicrocephaly-corpus callosum hypoplasia-intellectual disability-facial dysmorphism syndrome|9 conditions

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.