Arginine codon 1811 (CGC) was changed to cysteine (TGC) (p.R1811C) using an sgRNA and an ssODN template with CRISPR/Cas9 technology. The mutation is the equivalent of the human c.5425C>T p.Arg1809Cys mutation associated with neurofibromatosis 1 (NF1). (J:324999)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count