Variant (rsID / SNP)

rs59912693

rs59912693 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to IFT122. Location: chromosome 3, position 129,185,786. Clinical significance in the table: Likely benign.

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Reference-table entries

IFT122Likely benign

Clinical significance (as recorded): Likely benign
Variant type: single nucleotide variant
Chromosome / position: 3:129185786
Cytoband: 3q21.3
HGVS: NM_052989.3(IFT122):c.617T>C (p.Ile206Thr)
Allele change: Silent

Associated conditions / phenotypes

Cranioectodermal dysplasia 1

Public references

dbSNP
ClinVar
Ensembl
gnomAD

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