PNKP Chromosome 19

Polynucleotide kinase 3'-phosphatase
190 variants 190 Health Risk

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What This Gene Does
This locus represents a gene involved in DNA repair. In response to ionizing radiation or oxidative damage, the protein encoded by this locus catalyzes 5' phosphorylation and 3' dephosphorylation of nucleic acids. Mutations at this locus have been associated with microcephaly, seizures, and developmental delay.[provided by RefSeq, Sep 2010]
Gene Info
Gene Group
HAD Asp-based non-protein phosphatases
Locus Type
gene with protein product
Location
19q13.33
Ensembl
ENSG00000039650
Associated Conditions (26)
Microcephaly
seizures
and developmental delay
Developmental and epileptic encephalopathy
12
Inborn genetic diseases
PNKP-related disorder
Uterine corpus endometrial carcinoma
Ataxia - oculomotor apraxia type 4
Abnormal cerebral morphology
Charcot-Marie-Tooth disease type 2B2
Colon adenocarcinoma
Ovarian serous cystadenocarcinoma
Hepatocellular carcinoma
Adrenocortical carcinoma
hereditary
Global developmental delay
Primary microcephaly
Cerebellar atrophy
Abnormality of the nervous system
+6 more conditions
Key Variants
RS1017330396
Conflicting classifications of pathogenicity
Microcephaly, seizures, and developmental delay
Health Risk
RS1030404078
Conflicting classifications of pathogenicity
Developmental and epileptic encephalopathy, 12, Developmental and epileptic encephalopathy
Health Risk
RS1050332
Conflicting classifications of pathogenicity
Microcephaly, seizures, and developmental delay
Health Risk
RS115259839
Conflicting classifications of pathogenicity
Developmental and epileptic encephalopathy, 12, Microcephaly
Health Risk
RS116192442
Conflicting classifications of pathogenicity
Developmental and epileptic encephalopathy, 12, Microcephaly
Health Risk
RS1279136929
Conflicting classifications of pathogenicity
Developmental and epileptic encephalopathy, 12, Developmental and epileptic encephalopathy
Health Risk
RS1313353571
Conflicting classifications of pathogenicity
Developmental and epileptic encephalopathy, 12, Developmental and epileptic encephalopathy
Health Risk
RS139679798
Conflicting classifications of pathogenicity
Developmental and epileptic encephalopathy, 12, Developmental and epileptic encephalopathy
Health Risk
RS141969535
Conflicting classifications of pathogenicity
Developmental and epileptic encephalopathy, 12, Microcephaly
Health Risk
RS142143566
Conflicting classifications of pathogenicity
Developmental and epileptic encephalopathy, 12, Inborn genetic diseases
Health Risk
RS144257114
Conflicting classifications of pathogenicity
Microcephaly, seizures, and developmental delay
Health Risk
RS144284975
Conflicting classifications of pathogenicity
Developmental and epileptic encephalopathy, 12, Microcephaly
Health Risk
All Variants (190)
RSID Category Clinical Significance Conditions
RS1017330396 Health Risk Conflicting classifications of pathogenicity Microcephaly, seizures, and developmental delay
RS1030404078 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 12, Developmental and epileptic encephalopathy
RS1050332 Health Risk Conflicting classifications of pathogenicity Microcephaly, seizures, and developmental delay
RS115259839 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 12, Microcephaly
RS116192442 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 12, Microcephaly
RS1279136929 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 12, Developmental and epileptic encephalopathy
RS1313353571 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 12, Developmental and epileptic encephalopathy
RS139679798 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 12, Developmental and epileptic encephalopathy
RS141969535 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 12, Microcephaly
RS142143566 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 12, Inborn genetic diseases
RS144257114 Health Risk Conflicting classifications of pathogenicity Microcephaly, seizures, and developmental delay
RS144284975 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 12, Microcephaly
RS1443873131 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 12, Developmental and epileptic encephalopathy
RS146478958 Health Risk Conflicting classifications of pathogenicity Microcephaly, seizures, and developmental delay
RS1470343514 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 12, Developmental and epileptic encephalopathy
RS148491228 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 12, Microcephaly
RS148669160 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 12, Inborn genetic diseases
RS151180981 Health Risk Conflicting classifications of pathogenicity Microcephaly, seizures, and developmental delay
RS1555811201 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 12, Developmental and epileptic encephalopathy
RS199919568 Health Risk Conflicting classifications of pathogenicity Microcephaly, seizures, and developmental delay
RS200611702 Health Risk Conflicting classifications of pathogenicity Microcephaly, seizures, and developmental delay
RS200785744 Health Risk Conflicting classifications of pathogenicity Microcephaly, seizures, and developmental delay
RS201221600 Health Risk Conflicting classifications of pathogenicity Microcephaly, seizures, and developmental delay
RS201254691 Health Risk Conflicting classifications of pathogenicity Microcephaly, seizures, and developmental delay
RS201258910 Health Risk Conflicting classifications of pathogenicity Microcephaly, seizures, and developmental delay
RS201503405 Health Risk Conflicting classifications of pathogenicity Microcephaly, seizures, and developmental delay
RS34472250 Health Risk Conflicting classifications of pathogenicity Microcephaly, seizures, and developmental delay
RS369985921 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 12, Developmental and epileptic encephalopathy
RS370017666 Health Risk Conflicting classifications of pathogenicity Microcephaly, seizures, and developmental delay
RS371834726 Health Risk Conflicting classifications of pathogenicity Microcephaly, seizures, and developmental delay
RS372148913 Health Risk Conflicting classifications of pathogenicity Microcephaly, seizures, and developmental delay
RS373766090 Health Risk Conflicting classifications of pathogenicity Microcephaly, seizures, and developmental delay
RS3739173 Health Risk Conflicting classifications of pathogenicity Microcephaly, seizures, and developmental delay
RS3739199 Health Risk Conflicting classifications of pathogenicity Microcephaly, seizures, and developmental delay
RS3739200 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 12, Developmental and epileptic encephalopathy
RS3739202 Health Risk Conflicting classifications of pathogenicity Microcephaly, seizures, and developmental delay
RS373922574 Health Risk Conflicting classifications of pathogenicity Microcephaly, seizures, and developmental delay
RS374745816 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 12, Developmental and epileptic encephalopathy
RS376854895 Health Risk Conflicting classifications of pathogenicity Microcephaly, seizures, and developmental delay
RS531640505 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 12, Developmental and epileptic encephalopathy
RS532550120 Health Risk Conflicting classifications of pathogenicity Microcephaly, seizures, and developmental delay
RS537912514 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 12, Inborn genetic diseases
RS550311179 Health Risk Conflicting classifications of pathogenicity Microcephaly, seizures, and developmental delay
RS55756709 Health Risk Conflicting classifications of pathogenicity Microcephaly, seizures, and developmental delay
RS562480894 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 12, Inborn genetic diseases
RS565533397 Health Risk Conflicting classifications of pathogenicity Microcephaly, seizures, and developmental delay
RS570013652 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 12, Inborn genetic diseases
RS571119317 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 12, Developmental and epileptic encephalopathy
RS578207030 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 12, Ataxia - oculomotor apraxia type 4
RS587784367 Health Risk Conflicting classifications of pathogenicity Microcephaly, seizures, and developmental delay
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