A frameshift mutation was generated at codon 780, resulting in a nonsense mutation at 801. This stop codon is 11 residues downstream of the RasGAP binding site and precludes the translation of the SHP-2 and PLC-gamma binding sites. (J:86542)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count