This spontaneous C-to-T transition at chromosome 11 position 55,527,328 bp (GRCm38) causes an arginine to histidine (p.R197H) substitution in the encoded peptide. (J:234690)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count