rs796052857

This variant is located in the PNKP gene.

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ClinVar annotation

Uncertain Significance★★★☆
3 submitters1 publication

not provided; Developmental and epileptic encephalopathy, 12; Inborn genetic diseases

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About PNKP

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]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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