This spontaneous mutation arose in 1950 at the Ohio State University. The molecular mutation responsible for the phenotype is a C-to-T transition mutation in codon 234 that converts an arginine residue to a nonsense codon (p.R234*). (J:89934)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count