Variant (rsID / SNP)

rs879255562

rs879255562 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CHRNE. Location: chromosome 17, position 4,802,824. Clinical significance in the table: Pathogenic/Likely pathogenic.

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Reference-table entries

CHRNEPathogenic

Clinical significance (as recorded): Pathogenic/Likely pathogenic
Variant type: Deletion
Chromosome / position: 17:4802824
Cytoband: 17p13.2
HGVS: NM_000080.4(CHRNE):c.971del (p.Ile324fs)

Associated conditions / phenotypes

Congenital myasthenic syndrome 4C|Congenital myasthenic syndrome 4A|Congenital myasthenic syndrome|Congenital myasthenic syndrome 4B

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.