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Variant (rsID / SNP)

rs187401185

SCN4A

rs187401185 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SCN4A. Location: chromosome 17, position 62,038,602. 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
17:62038602
Cytoband
17q23.3
HGVS
NM_000334.4(SCN4A):c.1796A>G (p.His599Arg)
Allele change
Missense_H599R

Associated conditions / phenotypes

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

Public references

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