Variant (rsID / SNP)

rs137852808

rs137852808 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CHRNA1. Location: chromosome 2, position 175,612,912. Clinical significance in the table: Pathogenic.

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Reference-table entries

CHRNA1Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 2:175612912
Cytoband: 2q31.1
HGVS: NM_000079.4(CHRNA1):c.1314C>G (p.Cys438Trp)
Allele change: Missense_C438W

Associated conditions / phenotypes

Congenital myasthenic syndrome 1A

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.