ENU-induced T to C transition at base pair 111,271,410 (v38) on chromosome 9, or base pair 377 in the GenBank genomic region NC_000075 encoding Mlh1. The mutation corresponds to residue 199 in the mRNA sequence NM_026810 within exon 1 of 19 total exons. The mutation results in a cysteine to arginine substitution at position 39 (C39R) in the MLH1 protein. (J:265206)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count