Variant (rsID / SNP)

rs137852805

rs137852805 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CHRNA1. Location: chromosome 2, position 175,618,252. 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: 2:175618252
Cytoband: 2q31.1
HGVS: NM_000079.4(CHRNA1):c.757T>G (p.Phe253Val)
Allele change: Missense_F253V

Associated conditions / phenotypes

Myasthenic syndrome, congenital, 1B, fast-channel

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.