rs753641623

This variant is located in the PIGN gene.

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ClinVar annotation

Uncertain Significance★★★☆
2 submitters1 publication

Multiple congenital anomalies-hypotonia-seizures syndrome 1; Inborn genetic diseases

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About PIGN

This gene encodes a protein that is involved in glycosylphosphatidylinositol (GPI)-anchor biosynthesis. The GPI-anchor is a glycolipid found on many blood cells and serves to anchor proteins to the cell surface. This protein is expressed in the endoplasmic reticulum and transfers phosphoethanolamine (EtNP) to the first mannose of the GPI anchor. Two alternatively spliced variants, which encode an identical isoform, have been reported. [provided by RefSeq, Jul 2008]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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