ENU-induced A to G transition at base pair 19,947,098 (v38) on chromosome 16, or base pair 35,952 in the GenBank genomic regionNC_000082encodingKlhl6.The mutation corresponds to residue 1,799 in the mRNA sequence NM_183390 within exon 7 of 7 total exons. The mutation results in a threonine to alanine substitution at position 585 (T585A) in the KLHL6 protein. (J:272395)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count