ENU-induced A to T transversion at base pair 57,303,079 (v38) on chromosome 17, or base pair 24,001 in the GenBank genomic region NC_000083. The mutation corresponds to residue 1,428 in the mRNA sequence NM_011691 within exon 14 of 27 total exons. The mutation results in substitution of lysine 444 for a premature stop codon (K444*) in the VAV1 protein. (J:265128)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count