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.
