rs886052296

This variant is located in the CHST6 gene.

ClinVar annotation

Uncertain Significance☆☆☆
1 submitter

Macular corneal dystrophy

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About CHST6

The protein encoded by this gene is an enzyme that catalyzes the transfer of a sulfate group to the GlcNAc residues of keratan. Keratan sulfate helps maintain corneal transparency. Defects in this gene are a cause of macular corneal dystrophy (MCD). [provided by RefSeq, Jan 2010]

View all CHST6 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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