Gene entry
AMPD1
adenosine monophosphate deaminase 1
- Chromosome
- 1
- Cytoband
- 1p13.2
- Variants (rsID)
- 19
AMPD1 is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 1 (region 1p13.2). Its official name is “adenosine monophosphate deaminase 1”. The reference table lists 19 variants (rsID) for this gene.
Clinically classified variants
12 reference-table entries with clinical significance.
- rs140176911Benignsingle nucleotide variantMuscle AMP deaminase deficiency
- rs34257411Benignsingle nucleotide variantMuscle AMP deaminase deficiency
- rs61738827Benignsingle nucleotide variantMuscle AMP deaminase deficiency
- rs61752479Benignsingle nucleotide variantMuscle AMP deaminase deficiency
- rs80266556Benignsingle nucleotide variantMuscle AMP deaminase deficiency
- rs121912682Conflicting interpretationssingle nucleotide variantMuscle AMP deaminase deficiency
- rs139582106Conflicting interpretationssingle nucleotide variantMuscle AMP deaminase deficiency
- rs17602729Conflicting interpretationssingle nucleotide variantMuscle AMP deaminase deficiency
- rs34526199Conflicting interpretationssingle nucleotide variantMuscle AMP deaminase deficiency
- rs35859650Conflicting interpretationssingle nucleotide variantMuscle AMP deaminase deficiency
- rs61752478Conflicting interpretationssingle nucleotide variantMuscle AMP deaminase deficiency
- rs12566550Uncertain significancesingle nucleotide variantMuscle AMP deaminase deficiency
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.