rs138443305

This variant is located in the UBIAD1 gene.

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ClinVar annotation

Benign★★★☆
3 submitters1 publication

Schnyder crystalline corneal dystrophy; UBIAD1-related disorder; not provided

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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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