rs141117706

This variant is located in the PIGN gene.

▶

ClinVar annotation

Likely Benign★★★☆

4 submitters2 publications

Multiple congenital anomalies-hypotonia-seizures syndrome 1; not provided; Cervical cancer; Familial cancer of breast; Clear cell carcinoma of kidney; Sarcoma; Gastric cancer; Ovarian serous cystadenocarcinoma; Acute myeloid leukemia; Lung cancer; Uterine corpus endometrial carcinoma; Thymoma; Malignant tumor of esophagus

View on ClinVar →

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]

View all PIGN variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

Community Wiki

No community notes yet for this variant. Sign in to start one.

Comments

Loading comments…