CRISPR-targeting altered nucleotide 2549 from a T to an A (mRNA: NM_001360980.1; protein: NM_007462.3). This converts codon 850 from one encoding a leucine to a stop codon (p.Leu850*), truncating the expected polypeptide. (J:293217)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count