rs397509422

This is a variant in the GMPPB gene that changes a aspartate to an asparagine.

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ClinVar annotation

Pathogenic★★★☆
13 submitters7 publications

Abnormality of the musculature; Autosomal recessive limb-girdle muscular dystrophy type 2T; GMPPB-related disorder; Inborn genetic diseases; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14; Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B14 (MDDGB14)

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About GMPPB

This gene is thought to encode a GDP-mannose pyrophosphorylase. The encoded protein catalyzes the conversion of mannose-1-phosphate and GTP to GDP-mannose, a reaction involved in the production of N-linked oligosaccharides. Alternatively spliced transcript variants encoding distinct isoforms have been described. [provided by RefSeq, Jan 2009]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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