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Variant (rsID / SNP)

rs202144045

CHRNB1

rs202144045 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CHRNB1. Location: chromosome 17, position 7,359,120. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

CHRNB1Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
17:7359120
Cytoband
17p13.1
HGVS
NM_000747.3(CHRNB1):c.1225C>G (p.Pro409Ala)
Allele change
Missense_P409A

Associated conditions / phenotypes

Congenital myasthenic syndrome 4C|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.