RS199919568 PNKP
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What This Variant Does
"CLNSIG=5
Associated Conditions
Microcephaly
seizures
and developmental delay
Developmental and epileptic encephalopathy
12
Ataxia - oculomotor apraxia type 4
Abnormal cerebral morphology
Inborn genetic diseases
Charcot-Marie-Tooth disease type 2B2
PNKP-related disorder
Uterine corpus endometrial carcinoma
Colon adenocarcinoma
Ovarian serous cystadenocarcinoma
Hepatocellular carcinoma
Adrenocortical carcinoma
Other Variants in PNKP