Genetics University — Research, Education, Medical Genetics
Knowledge Hub

Variant (rsID / SNP)

rs762368691

CHRNE

rs762368691 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CHRNE. Location: chromosome 17, position 4,805,974. Clinical significance in the table: Pathogenic.

ShareE-MailWhatsAppLinkedInXFacebookTelegram

Reference-table entries

CHRNEPathogenic
Clinical significance (as recorded)
Pathogenic
Variant type
Duplication
Chromosome / position
17:4805974
Cytoband
17p13.2
HGVS
NM_000080.4(CHRNE):c.130dup (p.Glu44fs)

Associated conditions / phenotypes

Congenital myasthenic syndrome|Congenital myasthenic syndrome 4A|Myasthenic syndrome, slow-channel congenital|Abnormality of the musculature|Congenital myasthenic syndrome 4C|Congenital myasthenic syndrome 4A|Congenital myasthenic syndrome 4B

Public references

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