Gene entry
IFT140
intraflagellar transport 140
- Chromosome
- 16
- Cytoband
- 16p13.3
- Variants (rsID)
- 31
IFT140 is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 16 (region 16p13.3). Its official name is “intraflagellar transport 140”. The reference table lists 31 variants (rsID) for this gene.
Clinically classified variants
14 reference-table entries with clinical significance.
- rs11648609Benignsingle nucleotide variantSaldino-Mainzer syndrome
- rs138364426Benignsingle nucleotide variantSaldino-Mainzer syndrome
- rs139619013Benignsingle nucleotide variantSaldino-Mainzer syndrome
- rs141542834Benignsingle nucleotide variantSaldino-Mainzer syndrome
- rs143014223Benignsingle nucleotide variantSaldino-Mainzer syndrome
- rs2235638Benignsingle nucleotide variantSaldino-Mainzer syndrome
- rs34535263Benignsingle nucleotide variantSaldino-Mainzer syndrome
- rs34762152Benignsingle nucleotide variantSaldino-Mainzer syndrome
- rs79494390Benignsingle nucleotide variantSaldino-Mainzer syndrome
- rs141993139Conflicting interpretationssingle nucleotide variantSaldino-Mainzer syndrome
- rs201384469Conflicting interpretationssingle nucleotide variantSaldino-Mainzer syndrome|Microcephaly
- rs746697405Conflicting interpretationsMicrosatelliteAsphyxiating thoracic dystrophy 1|Orofacial-digital syndrome III|Saldino-Mainzer syndrome
- rs201188361Pathogenicsingle nucleotide variantSaldino-Mainzer syndrome|Jeune thoracic dystrophy|Retinal ciliopathy due to mutation in the retinitis pigmentosa-1 gene|Nephronophthisis|Retinitis pigmentosa 80|Saldino-Mainzer syndrome
- rs144938800Uncertain significancesingle nucleotide variantSaldino-Mainzer syndrome
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.