A G>T mutation at chr15:11,336,383 (GRCm38) changes cysteine codon 1518 to a phenylalanine codon (p.C1518F). (J:296898)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count