Variant (rsID / SNP)

rs140547512

rs140547512 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to IFT122. Location: chromosome 3, position 129,183,536. Clinical significance in the table: Uncertain significance.

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Reference-table entries

IFT122Uncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 3:129183536
Cytoband: 3q21.3
HGVS: NM_052989.3(IFT122):c.475C>T (p.Arg159Trp)
Allele change: Missense_R159W

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.