RS786205207 PNKP

Health Risk Chr 19:49861847
Upload your DNA to see your genotype for this variant.
What This Variant Does
"CLNSIG=5
Associated Conditions
Ataxia - oculomotor apraxia type 4
Microcephaly
seizures
and developmental delay
Charcot-Marie-Tooth disease type 2B2
Developmental and epileptic encephalopathy
12
Ataxia - oculomotor apraxia type 4
Microcephaly
seizures
and developmental delay
Charcot-Marie-Tooth disease type 2B2
Developmental and epileptic encephalopathy
12
Other Variants in PNKP
rs267606956 rs587784365 rs267606957 rs374745816 rs200611702 rs376854895 rs116192442 rs148491228 rs201503405 rs144284975
Ask Dr. Hemsworth about this variant