A spontaneous mutation induced a G-to-A nucleotide substitution that results in the amino acid substitution of glycine with arginine at position 220 (p.G220R). (J:222872)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count