CRIPSR/Cas9 technology generated an A to T mutation at position 6466 resulting in an arginine to tryptophan change at amino acid 2156 (R2156W). This mutation corresponds to the R2167W (c.6499C>T) mutation seen in a cryptophthalmos patient. (J:279933)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count