This ENU-induced single nucleotide substitution c.680T>C (from ATG start, NM-172621) in exon 6 is predicted to change a highly conserved phenylalanine residue at amino acid 227 to serine (NP_766209). (J:238912)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count