RS1064795165 PURA

Health Risk Chr 5:140114753
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What This Variant Does
"CLNSIG=4
Associated Conditions
Inborn genetic diseases
PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation
Inborn genetic diseases
PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation
Other Variants in PURA
rs587782991 rs587782992 rs587782993 rs587782994 rs587782995 rs587782996 rs587782997 rs587782998 rs587782999 rs587783000
Ask Dr. Hemsworth about this variant