This spontaneous mutation is a C-to-T transition in exon 39 that changes glutamine 1853 in repeat 18 to a stop codon (p.Q1853*). (J:157766)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count