Variant (rsID / SNP)

rs121909513

rs121909513 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CHRNE. Location: chromosome 17, position 4,805,606. Clinical significance in the table: Pathogenic.

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Reference-table entries

CHRNEPathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 17:4805606
Cytoband: 17p13.2
HGVS: NM_000080.4(CHRNE):c.250C>T (p.Arg84Ter)
Allele change: Nonsense_R84X

Associated conditions / phenotypes

Congenital myasthenic syndrome 4C|Congenital myasthenic syndrome 4A

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.