rs145303331

This is a variant in the PIGL gene that changes a leucine to an proline.

▶

ClinVar annotation

Pathogenic★★★☆
25 submitters14 publications

Bilateral cleft lip and palate; CHIME syndrome (CHIME); Camptodactyly of finger; Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Intellectual Disability, and Ear Anomalies (CHIME) Syndrome; Hypertelorism; Hypoplasia of scrotum; Inborn genetic diseases; Low-set ears; PIGL-related disorder; Postaxial hand polydactyly; Premature birth; Wide intermamillary distance

View on ClinVar →

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.

Community Wiki

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

Comments

Sign in to join the discussion.

Loading comments…