Variant (rsID / SNP)

rs137852809

rs137852809 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CHRNA1. Location: chromosome 2, position 175,618,323. 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: 2:175618323
Cytoband: 2q31.1
HGVS: NM_000079.4(CHRNA1):c.686G>T (p.Arg229Leu)
Allele change: Missense_R229L

Associated conditions / phenotypes

Lethal multiple pterygium syndrome

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.