RS201188361 IFT140
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What This Variant Does
"CLNSIG=5
Associated Conditions
Saldino-Mainzer syndrome
Jeune thoracic dystrophy
Retinal ciliopathy due to mutation in the retinitis pigmentosa-1 gene
Retinitis pigmentosa 80
Nephronophthisis
IFT140-related disorder
Retinal disorder
Saldino-Mainzer syndrome
Jeune thoracic dystrophy
Retinal ciliopathy due to mutation in the retinitis pigmentosa-1 gene
Retinitis pigmentosa 80
Nephronophthisis
IFT140-related disorder
Retinal disorder
Other Variants in IFT140