CRISPR mediated recombination introduced two nucleotide substitutions of a TA to GC resulting in a Y56A missense mutation. This mutation prevents the formation of the cis-CD274/CD80 duplex. (J:277405)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count