rs147714661

This variant is located in the GMPPB gene.

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ClinVar annotation

Likely Benign★☆☆☆
2 submitters1 publication

Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14;Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B14;Autosomal recessive limb-girdle muscular dystrophy type 2T; GMPPB-related disorder

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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]

View all GMPPB variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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