The mutation is a G to T transversion at codon 14, in exon 2, that is predicted to alter a glycine (GGT) to a cysteine (TGT)(G14C). (J:159597)
Basic Information
Chemically and radiation induced
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count