rs140075817

This is a variant in the EXT2 gene that changes a methionine to an arginine.

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ClinVar annotation

Pathogenic★★★☆
7 submitters5 publications

Exostoses, multiple, type 2 (EXT2); Seizures-scoliosis-macrocephaly syndrome; not specified

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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]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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