rs397514669

This is a variant in the UBIAD1 gene that changes a glycine to an glutamate.

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ClinVar annotation

Pathogenic★☆☆☆
2 submitters2 publications

Schnyder crystalline corneal dystrophy (SCCD)

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About UBIAD1

This gene encodes a protein thought to be involved in cholesterol and phospholipid metabolism. Mutations in this gene are associated with Schnyder crystalline corneal dystrophy. [provided by RefSeq, Oct 2008]

View all UBIAD1 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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