There is a single C-to-G mutation at coding nucleotide 840. This missense mutation leads to the replacement of a highly conserved histidine with a glutamine at codon 280 (p.H280Q) in the sulfotransferase domain. (J:122398)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count