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Variant (rsID / SNP)

rs62070884

SCN4A

rs62070884 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SCN4A. Location: chromosome 17, position 62,034,557. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

SCN4ABenign
Clinical significance (as recorded)
Benign/Likely benign
Variant type
single nucleotide variant
Chromosome / position
17:62034557
Cytoband
17q23.3
HGVS
NM_000334.4(SCN4A):c.2341G>A (p.Val781Ile)
Allele change
Missense_V781I

Associated conditions / phenotypes

Hyperkalemic periodic paralysis|Congenital myasthenic syndrome 16|Paramyotonia congenita of Von Eulenburg|Potassium-aggravated myotonia|Hypokalemic periodic paralysis, type 2|Joubert syndrome 17

Public references

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