rs6741892

This is a variant in the GALM gene that changes a asparagine to an tyrosine.

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ClinVar annotation

Benign★★★☆
5 submitters2 publications

GALM-related disorder; Galactosemia 4

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About GALM

This gene encodes an enzyme that catalyzes the epimerization of hexose sugars such as glucose and galactose. The encoded protein is expressed in the cytoplasm and has a preference for galactose. The encoded protein may be required for normal galactose metabolism by maintaining the equilibrium of alpha and beta anomers of galactose.[provided by RefSeq, Mar 2009]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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