Variant (rsID / SNP)

rs139171143

rs139171143 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CHRNE. Location: chromosome 17, position 4,802,111. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

CHRNEBenign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 17:4802111
Cytoband: 17p13.2
HGVS: NM_000080.4(CHRNE):c.1402G>C (p.Val468Leu)
Allele change: Missense_V468L

Associated conditions / phenotypes

Congenital myasthenic syndrome|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.