rs1463030663
This variant is located in the EXT2 gene.
▶ClinVar annotation
About EXT2
This gene encodes one of two glycosyltransferases involved in the chain elongation step of heparan sulfate biosynthesis. Mutations in this gene cause the type II form of multiple exostoses. Alternatively spliced transcript variants encoding different isoforms have been noted for this gene. [provided by RefSeq, Jul 2008]
View all EXT2 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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