Genetics University — Research, Education, Medical Genetics
Knowledge Hub

Variant (rsID / SNP)

rs759982229

SCN4A

rs759982229 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SCN4A. Location: chromosome 17, position 62,025,979. Clinical significance in the table: Conflicting interpretations of pathogenicity.

ShareE-MailWhatsAppLinkedInXFacebookTelegram

Reference-table entries

SCN4AConflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
17:62025979
Cytoband
17q23.3
HGVS
NM_000334.4(SCN4A):c.3136G>T (p.Gly1046Trp)
Allele change
Missense_G1046W

Associated conditions / phenotypes

Paramyotonia congenita of Von Eulenburg|Congenital myasthenic syndrome 16|Potassium-aggravated myotonia|Hypokalemic periodic paralysis, type 2|Hyperkalemic periodic paralysis

Public references

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