This spontaneous mutation is a C-to-T transition in exon 2 results in a leucine to phenylalanine mutation at amino acid 168 (p.L168F). (J:196356)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count