This T-to-C polymorphism at coding nucleotide 2723, found in the SEG strain, changes codon 908 from isoleucine to threonine (p.I908T). (J:38977)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count