rs1273247512

This variant is located in the PCBD2 gene.

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ClinVar annotation

Uncertain Significance★☆☆☆

1 submitter

not specified

About PCBD2

Predicted to enable 4-alpha-hydroxytetrahydrobiopterin dehydratase activity. Involved in positive regulation of DNA-templated transcription. Located in mitochondrion. [provided by Alliance of Genome Resources, Apr 2025]

View all PCBD2 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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