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Variant (rsID / SNP)

rs150638770

CHRNA1

rs150638770 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CHRNA1. Location: chromosome 2, position 175,618,354. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

CHRNA1Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
2:175618354
Cytoband
2q31.1
HGVS
NM_000079.4(CHRNA1):c.655C>T (p.Leu219=)
Allele change
Synonymous_L219L

Associated conditions / phenotypes

Congenital myasthenic syndrome|Lethal multiple pterygium syndrome

Public references

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.