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Variant (rsID / SNP)

rs201188361

IFT140

rs201188361 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to IFT140. Location: chromosome 16, position 1,642,177. Clinical significance in the table: Pathogenic/Likely pathogenic.

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Reference-table entries

IFT140Pathogenic
Clinical significance (as recorded)
Pathogenic/Likely pathogenic
Variant type
single nucleotide variant
Chromosome / position
16:1642177
Cytoband
16p13.3
HGVS
NM_014714.4(IFT140):c.634G>A (p.Gly212Arg)
Allele change
Missense_G212R

Associated conditions / phenotypes

Saldino-Mainzer syndrome|Jeune thoracic dystrophy|Retinal ciliopathy due to mutation in the retinitis pigmentosa-1 gene|Nephronophthisis|Retinitis pigmentosa 80|Saldino-Mainzer syndrome

Public references

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