CRISPR/cas9 mediated recombination induced a T to A mutation at position 2508 (c.2508T>A) resulting in a histidine 836 glutamine missense mutation. (J:265589)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count