CHRNE
HGNC:1966 · SaudiVarKB evidence summary derived from retained literature mentions.
3Gene mentions
3Publications
4Linked variants
0Associated phenotypes
Associated phenotypes
Co-mentioned in CHRNE publications| Phenotype | Identifier | Articles | Mentions |
|---|
No retained phenotype associations.
Linked variants
Variants normalized to CHRNE| Variant | HGVS / rsID | Articles | Mentions |
|---|---|---|---|
| c.991C>T | c.991C>T | 1 | 1 |
| c.905C>G | c.905C>G | 1 | 1 |
| c.1040T>C | c.1040T>C | 1 | 1 |
| c.1220-8_1227dup | c.1220-8_1227dup | 1 | 1 |
Population context
Reported in the same publications| Country / region | Group | Cohort | Articles |
|---|---|---|---|
| Not specified | — | — | 2 |
| Not specified | — | 1 | 1 |
Supporting publications
3 records- 2026Phenotypic Diversity in Pediatric Congenital Myasthenic Syndrome: Insights from CHRNE and DPAGT1 Variants.Neurology internationalPubMed ↗
- 2023Homozygous Duplication in the CHRNE in a Family with Congenital Myasthenic Syndrome 4C: 18-Year Follow Up.BiomedicinesPubMed ↗
- 2011Congenital myasthenic syndrome due to homozygous CHRNE mutations: report of patients in Arabia.Journal of neuro-ophthalmology : the official journal of the North American Neuro-Ophthalmology SocietyPubMed ↗