rs753930965

This variant is located in the POMGNT2 gene.

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ClinVar annotation

Likely Benign★☆☆☆

1 submitter1 publication

Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8

This gene encodes a protein with glycosyltransferase activity although its function is not currently known. [provided by RefSeq, Sep 2012]

Gene information from NCBI Gene. Variant classifications from ClinVar.

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