From: Identification and functional characterization of a novel homozygous intronic variant in the fumarylacetoacetate hydrolase gene in a Chinese patient with tyrosinemia type 1
Position
Type
Motif
Value (0–100)
c.914-1 (WT)
Splice acceptor
tctttccaacagGA
92.66
c.914-1 (mutant)
tctttccaacaaGA
Site broken
c.914 (potential)
ctttccaacaagAG
78.65