This mutation comprises a G to A transition in intron 27 (genomic position 57,491,646 of ENSMUSG00000062949) that alters the intron/exon boundary splice site. (J:71802, J:94077, J:171924)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count