RS138958687 ATP7A

Health Risk Chr X:78021065 snv missense variant
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What This Variant Does
"CLNSIG=4
Associated Conditions
Menkes kinky-hair syndrome
Cutis laxa
X-linked
X-linked distal spinal muscular atrophy type 3
Ehlers-Danlos syndrome
Inborn genetic diseases
ATP7A-related disorder
Menkes kinky-hair syndrome
Cutis laxa
X-linked
X-linked distal spinal muscular atrophy type 3
Ehlers-Danlos syndrome
Inborn genetic diseases
ATP7A-related disorder
Population Frequencies
gnomAD ALL
0%
Other Variants in ATP7A
rs2149112301 rs2149096859 rs151340631 rs72554649 rs1569549753 rs72554652 rs2522349526 rs1569549587 rs151340632 rs151340633
Ask Dr. Hemsworth about this variant