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Variant (rsID / SNP)

rs139021548

IFT172

rs139021548 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to IFT172. Location: chromosome 2, position 27,708,298. Clinical significance in the table: Pathogenic/Likely pathogenic.

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Reference-table entries

IFT172Pathogenic
Clinical significance (as recorded)
Pathogenic/Likely pathogenic
Variant type
single nucleotide variant
Chromosome / position
2:27708298
Cytoband
2p23.3
HGVS
NM_015662.3(IFT172):c.112C>T (p.Arg38Ter)
Allele change
Nonsense_R38X

Associated conditions / phenotypes

Short-rib thoracic dysplasia 10 with or without polydactyly|Retinitis pigmentosa 71|Short-rib thoracic dysplasia 10 with or without polydactyly

Public references

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.