RS137906617 CLN3

Health Risk Chr 16:28488642 snv missense variant
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Associated Conditions
Progressive myoclonic epilepsy type 3
Neuronal ceroid lipofuscinosis
Neuronal ceroid lipofuscinosis 3
Inborn genetic diseases
Progressive myoclonic epilepsy type 3
Neuronal ceroid lipofuscinosis
Neuronal ceroid lipofuscinosis 3
Inborn genetic diseases
Population Frequencies
gnomAD ALL
0%
1kG AFR
0.1%
1kG ALL
99.9%
1kG AMR
100%
1kG EAS
0.4%
1kG EUR
100%
1kG SAS
0.1%
Other Variants in CLN3
rs1555468634 rs121434286 rs267606737 rs386833694 rs386833695 rs386833696 rs386833697 rs386833698 rs386833699 rs386833700
Ask Dr. Hemsworth about this variant