rs1295566178

This variant is located in the ALG2 gene.

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ClinVar annotation

Uncertain Significance★★★☆
3 submitters1 publication

ALG2-congenital disorder of glycosylation;Congenital myasthenic syndrome 14; not provided; Inborn genetic diseases

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About ALG2

This gene encodes a member of the glycosyltransferase 1 family. The encoded protein acts as an alpha 1,3 mannosyltransferase, mannosylating Man(2)GlcNAc(2)-dolichol diphosphate and Man(1)GlcNAc(2)-dolichol diphosphate to form Man(3)GlcNAc(2)-dolichol diphosphate. Defects in this gene have been associated with congenital disorder of glycosylation type Ih (CDG-Ii). Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2008]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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