ENU-mutagenesis induced an A to C transversion in exon 7 (c.637A>C) resulted in the amino acid substitution of a serine for tyrosine at position 177 (Y177S). (J:195156)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count