The molecular lesion is a C-to-T transition at base pair 138,068,401 (GRCm38) on chromosome 1, or base pair 110,989 in the GenBank genomic region NC_000067. This corresponds to nucleotide 3,658 in the mRNA sequence NM_001111316, within exon 33 of 33 total exons; residue 3,339 in the mRNA sequence NM_011210, within exon 30 of 30 total exons; and residue 3,267 in the mRNA sequence NM_001268286, within exon 29 of 29 total exons. The mutation results in conversion of a codon for glutamine (Q) 1212 (isoform 1), Q1068 (isoform 2), or Q1047 (isoform 3) of the CD45 protein to a stop codon (Ter) (p.Q1212*/p.Q1068*/p.Q1047*). (J:216796)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count