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Variant (rsID / SNP)

rs146818399

IFT122

rs146818399 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to IFT122. Location: chromosome 3, position 129,225,350. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

IFT122Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
3:129225350
Cytoband
3q22.1
HGVS
NM_052989.3(IFT122):c.2749T>G (p.Tyr917Asp)
Allele change
Missense_Y858D

Associated conditions / phenotypes

Cranioectodermal dysplasia 1

Public references

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