Variant (rsID / SNP)

rs151193377

rs151193377 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CHRNE. Location: chromosome 17, position 4,802,088. Clinical significance in the table: Benign/Likely benign.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

CHRNEBenign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 17:4802088
Cytoband: 17p13.2
HGVS: NM_000080.4(CHRNE):c.1425C>T (p.Leu475=)
Allele change: Synonymous_L475L

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.