CHRNG Chromosome 2
Cholinergic receptor nicotinic gamma subunit
Upload your DNA to see your personal genotypes for variants in CHRNG.
What This Gene Does
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]
Gene Info
Gene Group
Cholinergic receptors nicotinic subunits
Locus Type
gene with protein product
Location
2q37.1
Ensembl
ENSG00000196811
Associated Conditions (16)
Autosomal recessive multiple pterygium syndrome
Lethal multiple pterygium syndrome
CHRNG-associated hypo-akinesia disorder of prenatal onset
CHRNG-related disorder
Inborn genetic diseases
Cholangiocarcinoma
Rheumatoid arthritis
Multiple pterygium syndrome
Arthrogryposis multiplex congenita
Fetal akinesia deformation sequence 1
Scoliosis
Ankle flexion contracture
Arthrogryposis-like hand anomaly
Abnormality of prenatal development or birth
Other rare neuromuscular disorders
Peripheral neuropathy
Key Variants
RS1308873617
Conflicting classifications of pathogenicity
Autosomal recessive multiple pterygium syndrome, Lethal multiple pterygium syndrome, Autosomal recessive multiple pterygium syndrome
Health Risk
RS138125827
Conflicting classifications of pathogenicity
Autosomal recessive multiple pterygium syndrome, Lethal multiple pterygium syndrome, Autosomal recessive multiple pterygium syndrome
Health Risk
RS138232636
Conflicting classifications of pathogenicity
Lethal multiple pterygium syndrome, CHRNG-associated hypo-akinesia disorder of prenatal onset, Lethal multiple pterygium syndrome
Health Risk
RS140623763
Conflicting classifications of pathogenicity
Lethal multiple pterygium syndrome, Autosomal recessive multiple pterygium syndrome, CHRNG-associated hypo-akinesia disorder of prenatal onset
Health Risk
RS141402683
Conflicting classifications of pathogenicity
Lethal multiple pterygium syndrome, Autosomal recessive multiple pterygium syndrome, Lethal multiple pterygium syndrome
Health Risk
RS143272752
Conflicting classifications of pathogenicity
Lethal multiple pterygium syndrome, Lethal multiple pterygium syndrome
Health Risk
RS143800157
Conflicting classifications of pathogenicity
Autosomal recessive multiple pterygium syndrome, Lethal multiple pterygium syndrome, CHRNG-associated hypo-akinesia disorder of prenatal onset
Health Risk
RS144948513
Conflicting classifications of pathogenicity
Lethal multiple pterygium syndrome, Lethal multiple pterygium syndrome
Health Risk
RS145433186
Conflicting classifications of pathogenicity
Autosomal recessive multiple pterygium syndrome, Lethal multiple pterygium syndrome, CHRNG-related disorder
Health Risk
RS145830034
Conflicting classifications of pathogenicity
Autosomal recessive multiple pterygium syndrome, Lethal multiple pterygium syndrome, Inborn genetic diseases
Health Risk
RS145907618
Conflicting classifications of pathogenicity
Lethal multiple pterygium syndrome, Lethal multiple pterygium syndrome
Health Risk
RS146674765
Conflicting classifications of pathogenicity
Lethal multiple pterygium syndrome, Inborn genetic diseases, Lethal multiple pterygium syndrome
Health Risk
All Variants (95)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS761413806 | Health Risk | Likely pathogenic | — |
| RS763847392 | Health Risk | Likely pathogenic | — |
| RS772646452 | Health Risk | Likely pathogenic | — |
| RS786205549 | Health Risk | Likely pathogenic | — |
| RS1003960580 | Health Risk | Pathogenic | — |
| RS1055176338 | Health Risk | Pathogenic | Autosomal recessive multiple pterygium syndrome, Autosomal recessive multiple pterygium syndrome |
| RS121912670 | Health Risk | Pathogenic | Autosomal recessive multiple pterygium syndrome, Lethal multiple pterygium syndrome, Autosomal recessive multiple pterygium syndrome |
| RS121912672 | Health Risk | Pathogenic | Autosomal recessive multiple pterygium syndrome, Lethal multiple pterygium syndrome, Autosomal recessive multiple pterygium syndrome |
| RS1265493319 | Health Risk | Pathogenic | Autosomal recessive multiple pterygium syndrome, Lethal multiple pterygium syndrome, Autosomal recessive multiple pterygium syndrome |
| RS1553578312 | Health Risk | Pathogenic | Lethal multiple pterygium syndrome, Lethal multiple pterygium syndrome |
| RS1559303793 | Health Risk | Pathogenic | — |
| RS1574643342 | Health Risk | Pathogenic | Autosomal recessive multiple pterygium syndrome, Autosomal recessive multiple pterygium syndrome |
| RS1692065656 | Health Risk | Pathogenic | — |
| RS201762781 | Health Risk | Pathogenic | Autosomal recessive multiple pterygium syndrome, Autosomal recessive multiple pterygium syndrome |
| RS2106221927 | Health Risk | Pathogenic | Autosomal recessive multiple pterygium syndrome, Autosomal recessive multiple pterygium syndrome |
| RS2469745168 | Health Risk | Pathogenic | Autosomal recessive multiple pterygium syndrome, Autosomal recessive multiple pterygium syndrome |
| RS2469745410 | Health Risk | Pathogenic | Autosomal recessive multiple pterygium syndrome, Autosomal recessive multiple pterygium syndrome |
| RS2469748360 | Health Risk | Pathogenic | — |
| RS2469748448 | Health Risk | Pathogenic | — |
| RS2469748575 | Health Risk | Pathogenic | — |
| RS2469750392 | Health Risk | Pathogenic | — |
| RS2469751152 | Health Risk | Pathogenic | — |
| RS2469751257 | Health Risk | Pathogenic | — |
| RS2469754940 | Health Risk | Pathogenic | — |
| RS2469755510 | Health Risk | Pathogenic | — |
| RS2469755516 | Health Risk | Pathogenic | — |
| RS747067203 | Health Risk | Pathogenic | Autosomal recessive multiple pterygium syndrome, Inborn genetic diseases, Lethal multiple pterygium syndrome |
| RS752487562 | Health Risk | Pathogenic | — |
| RS765746795 | Health Risk | Pathogenic | Autosomal recessive multiple pterygium syndrome, Lethal multiple pterygium syndrome, Autosomal recessive multiple pterygium syndrome |
| RS765868304 | Health Risk | Pathogenic | — |
| RS767503038 | Health Risk | Pathogenic | Lethal multiple pterygium syndrome, Autosomal recessive multiple pterygium syndrome, Inborn genetic diseases |
| RS771796518 | Health Risk | Pathogenic | — |
| RS773574226 | Health Risk | Pathogenic | — |
| RS774279192 | Health Risk | Pathogenic | CHRNG-related disorder, Autosomal recessive multiple pterygium syndrome, Lethal multiple pterygium syndrome |
| RS778176530 | Health Risk | Pathogenic | Lethal multiple pterygium syndrome, Autosomal recessive multiple pterygium syndrome, Lethal multiple pterygium syndrome |
| RS780249576 | Health Risk | Pathogenic | Lethal multiple pterygium syndrome, Autosomal recessive multiple pterygium syndrome, Lethal multiple pterygium syndrome |
| RS797044677 | Health Risk | Pathogenic | Inborn genetic diseases, Autosomal recessive multiple pterygium syndrome, Lethal multiple pterygium syndrome |
| RS1485492241 | Health Risk | Pathogenic/Likely pathogenic | Autosomal recessive multiple pterygium syndrome, Lethal multiple pterygium syndrome, Autosomal recessive multiple pterygium syndrome |
| RS1559302834 | Health Risk | Pathogenic/Likely pathogenic | Autosomal recessive multiple pterygium syndrome, Lethal multiple pterygium syndrome, Autosomal recessive multiple pterygium syndrome |
| RS1559304988 | Health Risk | Pathogenic/Likely pathogenic | Autosomal recessive multiple pterygium syndrome, Lethal multiple pterygium syndrome, Autosomal recessive multiple pterygium syndrome |
| RS2469750351 | Health Risk | Pathogenic/Likely pathogenic | Autosomal recessive multiple pterygium syndrome, Lethal multiple pterygium syndrome, Autosomal recessive multiple pterygium syndrome |
| RS764266722 | Health Risk | Pathogenic/Likely pathogenic | Lethal multiple pterygium syndrome, Autosomal recessive multiple pterygium syndrome, Arthrogryposis-like hand anomaly |
| RS768867302 | Health Risk | Pathogenic/Likely pathogenic | Autosomal recessive multiple pterygium syndrome, Lethal multiple pterygium syndrome, Autosomal recessive multiple pterygium syndrome |
| RS777219451 | Health Risk | Pathogenic/Likely pathogenic | Peripheral neuropathy, Autosomal recessive multiple pterygium syndrome, Lethal multiple pterygium syndrome |
| RS777809198 | Health Risk | Pathogenic/Likely pathogenic | Autosomal recessive multiple pterygium syndrome, Lethal multiple pterygium syndrome, Autosomal recessive multiple pterygium syndrome |