Variant (rsID / SNP)

rs117517364

rs117517364 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to IFT122. Location: chromosome 3, position 129,195,166. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

IFT122Benign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 3:129195166
Cytoband: 3q21.3
HGVS: NM_052989.3(IFT122):c.825G>T (p.Lys275Asn)
Allele change: Missense_K216N

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.