rs1035794099

This is a variant in the DNAJC12 gene that changes a arginine to an proline.

ClinVar annotation

Pathogenic
1 submitter1 publication

Hyperphenylalaninemia due to DNAJC12 deficiency

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About DNAJC12

This gene encodes a member of a subclass of the HSP40/DnaJ protein family. Members of this family of proteins are associated with complex assembly, protein folding, and export. Two transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Jul 2008]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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