Variant (rsID / SNP)

rs2302764

rs2302764 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CHRNB1. Location: chromosome 17, position 7,360,110. Clinical significance in the table: Benign.

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Reference-table entries

CHRNB1Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 17:7360110
Cytoband: 17p13.1
HGVS: NM_000747.3(CHRNB1):c.*68T>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.