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Gene entry

IFT172

intraflagellar transport 172

Chromosome
2
Cytoband
2p23.3
Variants (rsID)
13

IFT172 is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 2 (region 2p23.3). Its official name is “intraflagellar transport 172”. The reference table lists 13 variants (rsID) for this gene.

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Clinically classified variants

4 reference-table entries with clinical significance.

  • rs61742074Benignsingle nucleotide variantShort-rib thoracic dysplasia 10 with or without polydactyly|Retinitis pigmentosa 71
  • rs61747073Benignsingle nucleotide variantShort-rib thoracic dysplasia 10 with or without polydactyly|Retinitis pigmentosa 71
  • rs139021548Pathogenicsingle nucleotide variantShort-rib thoracic dysplasia 10 with or without polydactyly|Retinitis pigmentosa 71|Short-rib thoracic dysplasia 10 with or without polydactyly
  • rs147668131Uncertain significancesingle nucleotide variantShort-rib thoracic dysplasia 10 with or without polydactyly|Retinitis pigmentosa 71

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.