RS139747674 PRICKLE2

Health Risk Chr 3:64157304 snv missense variant
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What This Variant Does
"CLNSIG=3
Associated Conditions
Myoclonic epilepsy
progressive
X-linked
Progressive myoclonic epilepsy type 5
Progressive myoclonic epilepsy
Myoclonic epilepsy
progressive
X-linked
Progressive myoclonic epilepsy type 5
Progressive myoclonic epilepsy
Population Frequencies
gnomAD ALL
99.9%
1kG AFR
100%
1kG ALL
0.2%
1kG AMR
99.6%
1kG EAS
0.2%
1kG EUR
99.8%
1kG SAS
0.1%
Other Variants in PRICKLE2
rs144757200 rs771168722 rs144338942 rs139238137 rs202170644 rs367680077 rs750828226 rs2078512215 rs2077760949 rs745530308
Ask Dr. Hemsworth about this variant