rs115646874

This variant is located in the RFT1 gene.

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ClinVar annotation

Uncertain Significance★☆☆☆

1 submitter

RFT1-congenital disorder of glycosylation

About RFT1

This gene encodes an enzyme which catalyzes the translocation of the Man(5)GlcNAc (2)-PP-Dol intermediate from the cytoplasmic to the luminal side of the endoplasmic reticulum membrane in the pathway for the N-glycosylation of proteins. Mutations in this gene are associated with congenital disorder of glycosylation type In.[provided by RefSeq, Dec 2008]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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