Variant (rsID / SNP)

rs199903026

rs199903026 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CHRNB1. Location: chromosome 17, position 7,348,434. Clinical significance in the table: Likely benign.

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Reference-table entries

CHRNB1Likely benign

Clinical significance (as recorded): Likely benign
Variant type: single nucleotide variant
Chromosome / position: 17:7348434
Cytoband: 17p13.1
HGVS: NM_000747.3(CHRNB1):c.-13G>C
Allele change: Silent

Associated conditions / phenotypes

Congenital myasthenic syndrome 4C

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.