RS1805137 PEX7
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What This Variant Does
"rs1805137, also known as L292X, is a mutation in the peroxisome targeting signal 2 receptor PEX7 gen...
Associated Conditions
Rhizomelic chondrodysplasia punctata type 1
Peroxisome biogenesis disorder 9B
PEX7-related disorder
Phytanic acid storage disease
Retinal disorder
Rhizomelic chondrodysplasia punctata type 1
Peroxisome biogenesis disorder 9B
PEX7-related disorder
Phytanic acid storage disease
Retinal disorder
Other Variants in PEX7