rs764840485

This variant is located in the POMGNT1 gene.

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ClinVar annotation

Uncertain Significance

1 submitter

Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3

About POMGNT1

This gene encodes a type II transmembrane protein that resides in the Golgi apparatus. It participates in O-mannosyl glycosylation and is specific for alpha linked terminal mannose. Mutations in this gene may be associated with muscle-eye-brain disease and several congenital muscular dystrophies. Alternatively spliced transcript variants that encode different protein isoforms have been described. [provided by RefSeq, Feb 2014]

View all POMGNT1 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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