rs1057518948

This variant is located in the PIGL gene.

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ClinVar annotation

Uncertain Significance★★★☆
2 submitters1 publication

8 conditions; CHIME syndrome; Inborn genetic diseases

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About PIGL

This gene encodes an enzyme that catalyzes the second step of glycosylphosphatidylinositol (GPI) biosynthesis, which is the de-N-acetylation of N-acetylglucosaminylphosphatidylinositol (GlcNAc-PI). Study of a similar rat enzyme suggests that this protein localizes to the endoplasmic reticulum. [provided by RefSeq, Jul 2008]

View all PIGL variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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