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Variant (rsID / SNP)

rs199875082

CHRNB1

rs199875082 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CHRNB1. Location: chromosome 17, position 7,352,014. Clinical significance in the table: Pathogenic/Likely pathogenic.

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Reference-table entries

CHRNB1Pathogenic
Clinical significance (as recorded)
Pathogenic/Likely pathogenic
Variant type
single nucleotide variant
Chromosome / position
17:7352014
Cytoband
17p13.1
HGVS
NM_000747.3(CHRNB1):c.727C>T (p.Arg243Cys)
Allele change
Missense_R243C

Associated conditions / phenotypes

Congenital myasthenic syndrome 2A

Public references

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.