AMPD1 Chromosome 1

Adenosine monophosphate deaminase 1
34 variants 34 Health Risk

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What This Gene Does
Adenosine monophosphate deaminase 1 catalyzes the deamination of AMP to IMP in skeletal muscle and plays an important role in the purine nucleotide cycle. Two other genes have been identified, AMPD2 and AMPD3, for the liver- and erythocyte-specific isoforms, respectively. Deficiency of the muscle-specific enzyme is apparently a common cause of exercise-induced myopathy and probably the most common cause of metabolic myopathy in the human. Alternatively spliced transcript variants encoding different isoforms have been identified in this gene.[provided by RefSeq, Feb 2010]
Gene Info
Gene Group
Adenosine deaminase family
Locus Type
gene with protein product
Location
1p13.2
Ensembl
ENSG00000116748
Associated Conditions (6)
Muscle AMP deaminase deficiency
AMPD1-related disorder
Hypercholesterolemia
autosomal dominant
type B
Inborn genetic diseases
Key Variants
RS121912682
Conflicting classifications of pathogenicity
Muscle AMP deaminase deficiency, Muscle AMP deaminase deficiency
Health Risk
RS139582106
Conflicting classifications of pathogenicity
Muscle AMP deaminase deficiency, Muscle AMP deaminase deficiency
Health Risk
RS140181682
Conflicting classifications of pathogenicity
Muscle AMP deaminase deficiency, AMPD1-related disorder, Muscle AMP deaminase deficiency
Health Risk
RS141900642
Conflicting classifications of pathogenicity
Muscle AMP deaminase deficiency, Muscle AMP deaminase deficiency
Health Risk
RS142582318
Conflicting classifications of pathogenicity
Muscle AMP deaminase deficiency, Muscle AMP deaminase deficiency
Health Risk
RS143303736
Conflicting classifications of pathogenicity
Muscle AMP deaminase deficiency, Muscle AMP deaminase deficiency
Health Risk
RS1447749222
Conflicting classifications of pathogenicity
Muscle AMP deaminase deficiency, Muscle AMP deaminase deficiency
Health Risk
RS145786786
Conflicting classifications of pathogenicity
Muscle AMP deaminase deficiency, AMPD1-related disorder, Muscle AMP deaminase deficiency
Health Risk
RS146422068
Conflicting classifications of pathogenicity
Muscle AMP deaminase deficiency, Muscle AMP deaminase deficiency
Health Risk
RS150645738
Conflicting classifications of pathogenicity
Muscle AMP deaminase deficiency, Muscle AMP deaminase deficiency
Health Risk
RS181412206
Conflicting classifications of pathogenicity
Muscle AMP deaminase deficiency, Muscle AMP deaminase deficiency
Health Risk
RS201714031
Conflicting classifications of pathogenicity
Muscle AMP deaminase deficiency, Muscle AMP deaminase deficiency
Health Risk
All Variants (34)
RSID Category Clinical Significance Conditions
RS121912682 Health Risk Conflicting classifications of pathogenicity Muscle AMP deaminase deficiency, Muscle AMP deaminase deficiency
RS139582106 Health Risk Conflicting classifications of pathogenicity Muscle AMP deaminase deficiency, Muscle AMP deaminase deficiency
RS140181682 Health Risk Conflicting classifications of pathogenicity Muscle AMP deaminase deficiency, AMPD1-related disorder, Muscle AMP deaminase deficiency
RS141900642 Health Risk Conflicting classifications of pathogenicity Muscle AMP deaminase deficiency, Muscle AMP deaminase deficiency
RS142582318 Health Risk Conflicting classifications of pathogenicity Muscle AMP deaminase deficiency, Muscle AMP deaminase deficiency
RS143303736 Health Risk Conflicting classifications of pathogenicity Muscle AMP deaminase deficiency, Muscle AMP deaminase deficiency
RS1447749222 Health Risk Conflicting classifications of pathogenicity Muscle AMP deaminase deficiency, Muscle AMP deaminase deficiency
RS145786786 Health Risk Conflicting classifications of pathogenicity Muscle AMP deaminase deficiency, AMPD1-related disorder, Muscle AMP deaminase deficiency
RS146422068 Health Risk Conflicting classifications of pathogenicity Muscle AMP deaminase deficiency, Muscle AMP deaminase deficiency
RS150645738 Health Risk Conflicting classifications of pathogenicity Muscle AMP deaminase deficiency, Muscle AMP deaminase deficiency
RS181412206 Health Risk Conflicting classifications of pathogenicity Muscle AMP deaminase deficiency, Muscle AMP deaminase deficiency
RS201714031 Health Risk Conflicting classifications of pathogenicity Muscle AMP deaminase deficiency, Muscle AMP deaminase deficiency
RS34526199 Health Risk Conflicting classifications of pathogenicity Muscle AMP deaminase deficiency, Hypercholesterolemia, autosomal dominant
RS35859650 Health Risk Conflicting classifications of pathogenicity Muscle AMP deaminase deficiency, Muscle AMP deaminase deficiency
RS376789465 Health Risk Conflicting classifications of pathogenicity Muscle AMP deaminase deficiency, Muscle AMP deaminase deficiency
RS377308009 Health Risk Conflicting classifications of pathogenicity Muscle AMP deaminase deficiency, Inborn genetic diseases, Muscle AMP deaminase deficiency
RS377496676 Health Risk Conflicting classifications of pathogenicity Muscle AMP deaminase deficiency, Muscle AMP deaminase deficiency
RS398123114 Health Risk Conflicting classifications of pathogenicity Muscle AMP deaminase deficiency, Muscle AMP deaminase deficiency
RS398123115 Health Risk Conflicting classifications of pathogenicity Muscle AMP deaminase deficiency, Muscle AMP deaminase deficiency
RS547487220 Health Risk Conflicting classifications of pathogenicity Muscle AMP deaminase deficiency, Muscle AMP deaminase deficiency
RS557878856 Health Risk Conflicting classifications of pathogenicity Muscle AMP deaminase deficiency, Muscle AMP deaminase deficiency
RS566349141 Health Risk Conflicting classifications of pathogenicity Muscle AMP deaminase deficiency, Muscle AMP deaminase deficiency
RS570832252 Health Risk Conflicting classifications of pathogenicity Muscle AMP deaminase deficiency, AMPD1-related disorder, Muscle AMP deaminase deficiency
RS571473762 Health Risk Conflicting classifications of pathogenicity Muscle AMP deaminase deficiency, Muscle AMP deaminase deficiency
RS61741025 Health Risk Conflicting classifications of pathogenicity Muscle AMP deaminase deficiency, AMPD1-related disorder, Muscle AMP deaminase deficiency
RS61752478 Health Risk Conflicting classifications of pathogenicity Muscle AMP deaminase deficiency, Muscle AMP deaminase deficiency
RS61758863 Health Risk Conflicting classifications of pathogenicity Muscle AMP deaminase deficiency, AMPD1-related disorder, Muscle AMP deaminase deficiency
RS751594548 Health Risk Conflicting classifications of pathogenicity Muscle AMP deaminase deficiency, Muscle AMP deaminase deficiency
RS770286295 Health Risk Conflicting classifications of pathogenicity Muscle AMP deaminase deficiency, Muscle AMP deaminase deficiency
RS778223264 Health Risk Conflicting classifications of pathogenicity Muscle AMP deaminase deficiency, Muscle AMP deaminase deficiency
RS781556684 Health Risk Conflicting classifications of pathogenicity Muscle AMP deaminase deficiency, Muscle AMP deaminase deficiency
RS17602729 Health Risk Conflicting classifications of pathogenicity; other Muscle AMP deaminase deficiency, AMPD1-related disorder, Muscle AMP deaminase deficiency
RS61752479 Health Risk Conflicting classifications of pathogenicity; other Muscle AMP deaminase deficiency, AMPD1-related disorder, Muscle AMP deaminase deficiency
RS1657881990 Health Risk Likely pathogenic Muscle AMP deaminase deficiency, Muscle AMP deaminase deficiency
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