Gene entry
IFT122
intraflagellar transport 122
- Chromosome
- 3
- Cytoband
- 3q21.3-q22.1
- Variants (rsID)
- 32
IFT122 is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 3 (region 3q21.3-q22.1). Its official name is “intraflagellar transport 122”. The reference table lists 32 variants (rsID) for this gene.
Clinically classified variants
14 reference-table entries with clinical significance.
- rs117517364Benignsingle nucleotide variantCranioectodermal dysplasia 1
- rs146026277Benignsingle nucleotide variantCranioectodermal dysplasia 1
- rs149884307Benignsingle nucleotide variantCranioectodermal dysplasia 1
- rs150550701Benignsingle nucleotide variantCranioectodermal dysplasia 1|Rod-cone dystrophy|Connective tissue disorder
- rs61744639Benignsingle nucleotide variantCranioectodermal dysplasia 1|Connective tissue disorder
- rs146818399Conflicting interpretationssingle nucleotide variantCranioectodermal dysplasia 1
- rs76881473Conflicting interpretationssingle nucleotide variantCranioectodermal dysplasia 1|Connective tissue disorder
- rs79187669Conflicting interpretationssingle nucleotide variantCranioectodermal dysplasia 1
- rs59912693Likely benignsingle nucleotide variantCranioectodermal dysplasia 1
- rs267607192Likely pathogenicsingle nucleotide variantCranioectodermal dysplasia 1
- rs139079256Uncertain significancesingle nucleotide variantCranioectodermal dysplasia 1
- rs140547512Uncertain significancesingle nucleotide variantCranioectodermal dysplasia 1
- rs144140226Uncertain significancesingle nucleotide variantCranioectodermal dysplasia 1
- rs61744448Uncertain significancesingle nucleotide variantCranioectodermal dysplasia 1
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.