A T-to-G transversion causes a phenylalanine to cysteine substitution in position 168 ( amino-acid 20 of helix 1 of the homeodomain) (p.F168C). This allele is hypomorphic. (J:91405)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count