rs786205593
This is a stop gained variant in the EXT1 gene.
▶ClinVar annotation
About EXT1
This gene encodes an endoplasmic reticulum-resident type II transmembrane glycosyltransferase involved in the chain elongation step of heparan sulfate biosynthesis. Mutations in this gene cause the type I form of multiple exostoses. [provided by RefSeq, Jul 2008]
View all EXT1 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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