rs786204780

This is a coding sequence variant variant in the ACBD6 gene.

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ClinVar annotation

Pathogenic★☆☆☆

1 submitter2 publications

Short stature-pituitary and cerebellar defects-small sella turcica syndrome (CPHD4)

Enables fatty-acyl-CoA binding activity. Located in cytoplasm and nucleus. [provided by Alliance of Genome Resources, Jul 2025]

Gene information from NCBI Gene. Variant classifications from ClinVar.

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