Variant (rsID / SNP)

rs2727278

rs2727278 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SCN4A. Location: chromosome 17, position 62,016,704. Clinical significance in the table: Benign.

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Reference-table entries

SCN4ABenign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 17:62016704
Cytoband: 17q23.3
HGVS: NM_000334.4(SCN4A):c.*1427T>C
Allele change: Silent

Associated conditions / phenotypes

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

Public references

dbSNP
ClinVar
Ensembl
gnomAD

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