rs1265493319
This variant is located in the CHRNG gene.
▶ClinVar annotation
not provided; Autosomal recessive multiple pterygium syndrome;Lethal multiple pterygium syndrome
View on ClinVar →▶Research that mentions this SNP (1)
▶NGS-Based Assay for the Identification of Individuals Carrying Recessive Genetic Mutations in Reproductive MedicineCase reportN=231Anna Abulí et al.(2016)· Human Mutation
A PhD thesis investigating the feasibility of implementing expanded preconception carrier screening (ECS) for 474 genes in Western Australia. A pilot study recruited 231 couples and screened 225, identifying 7 novel high-risk couples (1 in 32 couples, or 3.1%) who carry pathogenic variants in the same gene. Six of these high-risk couples had women carrying X-linked pathogenic variants, indicating carrier screening can effectively identify at-risk couples and facilitate informed reproductive decision-making through the public health system.
About CHRNG
The mammalian muscle-type acetylcholine receptor is a transmembrane pentameric glycoprotein with two alpha subunits, one beta, one delta, and one epsilon (in adult skeletal muscle) or gamma (in fetal and denervated muscle) subunit. This gene, which encodes the gamma subunit, is expressed prior to the thirty-third week of gestation in humans. The gamma subunit of the acetylcholine receptor plays a role in neuromuscular organogenesis and ligand binding and disruption of gamma subunit expression prevents the correct localization of the receptor in cell membranes. Mutations in this gene cause Escobar syndrome and a lethal form of multiple pterygium syndrome. Muscle-type acetylcholine receptor is the major antigen in the autoimmune disease myasthenia gravis.[provided by RefSeq, Sep 2009]
View all CHRNG variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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