The mutation is a T to C transition at base pair 18,955,053 (v38) on chromosome 19, or base pair 156,144 in the GenBank genomic region NC_000085. The mutation corresponds to residue 1,738 in the mRNA sequence NM_001043354 (variant 1) within exon 8 of 10 total exons, residue 1,204 in the mRNA sequence NM_146095 (variant 2) within exon 8 of 10 total exons, and residue 1,257 in the mRNA sequence NM_001289921 (variant 3) within exon 8 of 10 total exons. The mutation results in a leucine (L) to proline (P) substitution at position 367 (L367P) in isoform 1 and isoform 3 as well as L378P in isoform 2. (J:221488)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count