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Variant (rsID / SNP)

rs111926172

SCN4A

rs111926172 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SCN4A. Location: chromosome 17, position 62,049,961. 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
17:62049961
Cytoband
17q23.3
HGVS
NM_000334.4(SCN4A):c.241G>C (p.Glu81Gln)
Allele change
Missense_E81Q

Associated conditions / phenotypes

Potassium-aggravated myotonia|Congenital myasthenic syndrome 16|Paramyotonia congenita of Von Eulenburg|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.