Variant: rs398122984

present in Gene: TGFB3;IFT43 present in Chromosome: 14 Position on Chromosome: 75959200 Alleles of this Variant: C/T

rs398122984 in TGFB3;IFT43 gene and RIENHOFF SYNDROME PMID 23824657 2013 A mutation in TGFB3 associated with a syndrome of low muscle mass, growth retardation, distal arthrogryposis and clinical features overlapping with Marfan and Loeys-Dietz syndrome.