Variant (rsID / SNP)

rs121909512

rs121909512 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CHRNE. Location: chromosome 17, position 4,805,305. 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: 17:4805305
Cytoband: 17p13.2
HGVS: NM_000080.4(CHRNE):c.422C>T (p.Pro141Leu)
Allele change: Missense_P141L

Associated conditions / phenotypes

Congenital myasthenic syndrome 4B|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.