This spontaneous C-to-A mutation, found in the Kunming strain, changes tyrosine codon 347 (TAC) in exon 7 to a stop codon (TAA). (J:273686)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count