rs991337229

This variant is located in the GXYLT1 gene.

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ClinVar annotation

Likely Benign★☆☆☆

1 submitter

About GXYLT1

GXYLT1 is a xylosyltransferase (EC 2.4.2.-) that adds the first xylose to O-glucose-modified residues in the epidermal growth factor (EGF; MIM 131530) repeats of proteins such as NOTCH1 (MIM 190198) (Sethi et al., 2010 [PubMed 19940119]).[supplied by OMIM, Mar 2010]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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