This spontaneous G-to-A mutation (ChrX:g.57092486G>A) changes glycine codon 72 to an arginine codon (p.G72R) and changes splice donor site G-GT to A-GT. It is only found in the A/J, BALB/cJ, BALB/cByJ, C3HeH, C3HeJ, and SEA/GnJ strains. (J:294207)
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cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count