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Variant (rsID / SNP)

rs139625105

CHRNE

rs139625105 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CHRNE. Location: chromosome 17, position 4,805,262. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

CHRNEConflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
17:4805262
Cytoband
17p13.2
HGVS
NM_000080.4(CHRNE):c.465C>T (p.Phe155=)
Allele change
Synonymous_F155F

Associated conditions / phenotypes

Congenital myasthenic syndrome|Congenital myasthenic syndrome 4A

Public references

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