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disease: Congenital disorder of glycosylation type 1N

id1003
nameCongenital disorder of glycosylation type 1N
variant-disease NM_052859.4(RFT1):c.1455G>A (p.Ser485=) AND Congenital disorder of glycosylation type 1N
NM_052859.4(RFT1):c.887T>A (p.Ile296Lys) AND Congenital disorder of glycosylation type 1N
NM_052859.4(RFT1):c.199C>T (p.Arg67Cys) AND Congenital disorder of glycosylation type 1N
NM_052859.4(RFT1):c.887T>G (p.Ile296Arg) AND Congenital disorder of glycosylation type 1N
NM_052859.4(RFT1):c.454A>G (p.Lys152Glu) AND Congenital disorder of glycosylation type 1N
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