RS786203983 PNKP

Health Risk Chr 19:49862188
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What This Variant Does
"CLNSIG=5
Associated Conditions
Ataxia - oculomotor apraxia type 4
Inborn genetic diseases
Developmental and epileptic encephalopathy
12
Microcephaly
seizures
and developmental delay
Ataxia - oculomotor apraxia type 4
Inborn genetic diseases
Developmental and epileptic encephalopathy
12
Microcephaly
seizures
and developmental delay
Other Variants in PNKP
rs267606956 rs587784365 rs267606957 rs374745816 rs200611702 rs376854895 rs116192442 rs148491228 rs201503405 rs144284975
Ask Dr. Hemsworth about this variant