CRISPR/Cas12a technology generated a C to T change resulting in an arginine to cysteine substitution at amino acid 1540 (p.R1540C). This corresponds to the p.R1537C variant carried in Neanderthals and Denisovans, extinct hominins close to modern humans. (J:343594)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count