CRISPR/Cas9 technology generated a valine to methionine substitution at amino acid 98 (p.V98M). V98M is a rare missense variant identified in two brothers afflicted with a progressive neuropathy syndrome. (J:335315)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count