This allele is the result of a missense mutation comprising a G-toT transversion producing an alanine-to-serine substitution at position 80 in the N-terminal domain of the encoded protein (p.A80S). (J:18524, J:20373)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count