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Variant (rsID / SNP)

rs527236149

SCN4A

rs527236149 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SCN4A. Location: chromosome 17, position 62,024,460. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

SCN4AConflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
17:62024460
Cytoband
17q23.3
HGVS
NM_000334.4(SCN4A):c.3386G>A (p.Arg1129Gln)
Allele change
Missense_R1129Q

Associated conditions / phenotypes

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

Public references

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