ENU-induced C to T transition at base pair 98,904,791 (v38) on chromosome 15, or base pair 13,458 in the GenBank genomic region NC_000081 encoding Lmbr1l. The mutation corresponds to residue 1,453 in the mRNA sequence NM_029098 within exon 16 of 17 total exons. The mutation results in an arginine to cysteine substitution at position 426 (R426C) in the LMBR1L protein. (J:274857)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count