Gene entry
OFD1
OFD1 centriole and centriolar satellite protein
- Chromosome
- X
- Cytoband
- Xp22.2
- Variants (rsID)
- 14
OFD1 is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome X (region Xp22.2). Its official name is “OFD1 centriole and centriolar satellite protein”. The reference table lists 14 variants (rsID) for this gene.
Clinically classified variants
5 reference-table entries with clinical significance.
- rs143954823Benignsingle nucleotide variantHistory of neurodevelopmental disorder|Joubert syndrome|Orofaciodigital syndrome I
- rs200767363Benignsingle nucleotide variantJoubert syndrome|Orofaciodigital syndrome I
- rs147114577Conflicting interpretationssingle nucleotide variantJoubert syndrome|Orofaciodigital syndrome I
- rs199902986Conflicting interpretationssingle nucleotide variantJoubert syndrome|Orofaciodigital syndrome I|Congenital anomaly of kidney and urinary tract
- rs312262894PathogenicDeletionJoubert syndrome 10
Other listed variants
Public references
Data from the institutional reference table and public NCBI annotation. For education only; not a substitute for medical or genetic counselling.