Genetics University — Research, Education, Medical Genetics
Knowledge Hub

Gene entry

GMPPB

GDP-mannose pyrophosphorylase B

Chromosome
3
Cytoband
3p21.31
Variants (rsID)
3

GMPPB is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 3 (region 3p21.31). Its official name is “GDP-mannose pyrophosphorylase B”. The reference table lists 3 variants (rsID) for this gene.

ShareE-MailWhatsAppLinkedInXFacebookTelegram

Clinically classified variants

3 reference-table entries with clinical significance.

  • rs202160208Conflicting interpretationssingle nucleotide variantMuscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B14|Autosomal recessive limb-girdle muscular dystrophy type 2T|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|Inborn genetic diseases|Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14|Abnormality of the musculature
  • rs199922550Likely pathogenicsingle nucleotide variantAutosomal recessive limb-girdle muscular dystrophy type 2T|Muscular dystrophy-dystroglycanopathy|Inborn genetic diseases|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|Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14
  • rs142336618Pathogenicsingle nucleotide variantAutosomal recessive limb-girdle muscular dystrophy type 2T|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|Muscular dystrophy|Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B14

Public references

Data from the institutional reference table and public NCBI annotation. For education only; not a substitute for medical or genetic counselling.