This allele has a G-to-A missense mutation at coding nucleotide 2633 that results in the amino acid substitution of arginine with histidine at position 878 (p.R878H). (J:237080)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count