Variant (rsID / SNP)

rs140763858

rs140763858 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CHRNE. Location: chromosome 17, position 4,802,544. Clinical significance in the table: Uncertain significance.

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Reference-table entries

CHRNEUncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 17:4802544
Cytoband: 17p13.2
HGVS: NM_000080.4(CHRNE):c.1168C>T (p.Arg390Trp)
Allele change: Missense_R390W

Associated conditions / phenotypes

Congenital myasthenic syndrome 4A|Congenital myasthenic syndrome

Public references

dbSNP
ClinVar
Ensembl
gnomAD

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.