rs111541487

This variant is located in the B3GALNT2 gene.

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ClinVar annotation

Conflicting Classifications
3 submitters2 publications

Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11; Inborn genetic diseases

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About B3GALNT2

This gene encodes a member of the glycosyltransferase 31 family. The encoded protein synthesizes GalNAc:beta-1,3GlcNAc, a novel carbohydrate structure, on N- and O-glycans. Alternatively spliced transcript variants that encode different isoforms have been described. [provided by RefSeq, Mar 2013]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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