Variant (rsID / SNP)
rs79187669
rs79187669 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to IFT122. Location: chromosome 3, position 129,195,523. Clinical significance in the table: Conflicting interpretations of pathogenicity.
Reference-table entries
IFT122Conflicting interpretations
- Clinical significance (as recorded)
- Conflicting interpretations of pathogenicity
- Variant type
- single nucleotide variant
- Chromosome / position
- 3:129195523
- Cytoband
- 3q21.3
- HGVS
- NM_052989.3(IFT122):c.1026C>T (p.Asp342=)
- Allele change
- Synonymous_D283D
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.