Variant (rsID / SNP)

rs137852799

rs137852799 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CHRNA1. Location: chromosome 2, position 175,618,961. Clinical significance in the table: Uncertain significance.

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Reference-table entries

CHRNA1Uncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 2:175618961
Cytoband: 2q31.1
HGVS: NM_000079.4(CHRNA1):c.526G>A (p.Val176Met)
Allele change: Missense_V176M

Associated conditions / phenotypes

Congenital myasthenic syndrome 1A|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.