Polgtm1.1Lrsn produced a C to T point mutation at position 13715 (C13715T) that results in the amino acid substitution of aspartic acid for glycine at position 119 (G119D). (J:238994)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count