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Variant (rsID / SNP)

rs144169073

CHRNE

rs144169073 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CHRNE. Location: chromosome 17, position 4,806,002. 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
17:4806002
Cytoband
17p13.2
HGVS
NM_000080.4(CHRNE):c.103T>C (p.Tyr35His)
Allele change
Missense_Y35H

Associated conditions / phenotypes

Congenital myasthenic syndrome 4A|Congenital myasthenic syndrome 4C|Congenital myasthenic syndrome|Congenital myasthenic syndrome 4B|Toe walking

Public references

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