A spontaneous T-to-A transversion in chromosome 2 position 155,941,581 (GRCm38) yields a tyrosine to asparagine substitution at amino acid 484 (p.Y484N). (J:200816, J:222308)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count