This mutation was isolated at The Oak Ridge National Laboratory. A single nucleotide substitution was found in genomic DNA. A C-to-T change at the exon 27/intron 27 boundary results the in-frame exon skipping of the last45 bp of exon 27 in the encoded mRNA. (J:163586)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count