A T-to-G (A-to-C on negative gene strand) point mutation in codon 11 results in the substitution of serine with arginine at position 11 (p.S11R). (J:132502)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count