rs121912643

This is a variant in the ACBD6 gene that changes a leucine to an arginine.

▶

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.

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

Loading comments…