rs148193087

This variant is located in the CHSY1 gene.

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ClinVar annotation

Likely Benign★★★☆

8 submitters3 publications

not specified; Temtamy preaxial brachydactyly syndrome; not provided; CHSY1-related disorder

About CHSY1

This gene encodes a member of the chondroitin N-acetylgalactosaminyltransferase family. These enzymes possess dual glucuronyltransferase and galactosaminyltransferase activity and play critical roles in the biosynthesis of chondroitin sulfate, a glycosaminoglycan involved in many biological processes including cell proliferation and morphogenesis. Decreased expression of this gene may play a role in colorectal cancer, and mutations in this gene are a cause of temtamy preaxial brachydactyly syndrome. [provided by RefSeq, Dec 2011]

View all CHSY1 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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