GENETIC ENCYCLOPEDIA
ABOUT US    

   

disease: Congenital disorder of glycosylation type 1J

id835
nameCongenital disorder of glycosylation type 1J
variant-disease NM_001382.4(DPAGT1):c.85A>T (p.Ile29Phe) AND Congenital disorder of glycosylation type 1J
NM_001382.4(DPAGT1):c.509A>G (p.Tyr170Cys) AND Congenital disorder of glycosylation type 1J
NM_001382.4(DPAGT1):c.161+5G>A AND Congenital disorder of glycosylation type 1J
NM_001382.4(DPAGT1):c.584C>G (p.Ala195Gly) AND Congenital disorder of glycosylation type 1J
NM_001382.4(DPAGT1):c.341C>G (p.Ala114Gly) AND Congenital disorder of glycosylation type 1J
... 33 more