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Gene entry

ATP2A1

ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 1

Chromosome
16
Cytoband
16p11.2
Variants (rsID)
9

ATP2A1 is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 16 (region 16p11.2). Its official name is “ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 1”. The reference table lists 9 variants (rsID) for this gene.

Clinically classified variants

5 reference-table entries with clinical significance.

  • rs113803159Conflicting interpretationssingle nucleotide variantBrody myopathy
  • rs117350233Conflicting interpretationssingle nucleotide variantBrody myopathy
  • rs138565447Conflicting interpretationssingle nucleotide variantBrody myopathy
  • rs376915313Conflicting interpretationssingle nucleotide variantBrody myopathy
  • rs182084601Uncertain significancesingle nucleotide variantBrody myopathy

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.