rs376483443

This variant is located in the ALG9 gene.

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ClinVar annotation

Uncertain Significance★★★☆
3 submitters1 publication

ALG9 congenital disorder of glycosylation; not provided; Acute myeloid leukemia

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About ALG9

This gene encodes an alpha-1,2-mannosyltransferase enzyme that functions in lipid-linked oligosaccharide assembly. Mutations in this gene result in congenital disorder of glycosylation type Il. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2008]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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