Rs78655421

This cystic fibrosis variant, c.350G>A, known as Arg117His or R117H and associated with a G>A mutation, is reported to have varying clinical consequences. Other mutations possible at this position are G>C (Arg117Pro) and G>T (Arg117Leu), but their effect is not listed in ClinVar or CFTR2.

rs78655421 is also named i5010839, i5006049 and i4000295 by 23andMe; while for them, i5010838 represents the G>C mutation and i5010837 the G>T.