rs959624320

This variant is located in the PCBD2 gene.

▶

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.

Community Wiki

No community notes yet for this variant. Sign in to start one.

Comments

Loading comments…