Variant (rsID / SNP)

rs80338792

rs80338792 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SCN4A. Location: chromosome 17, position 62,021,206. Clinical significance in the table: Pathogenic.

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Reference-table entries

SCN4APathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 17:62021206
Cytoband: 17q23.3
HGVS: NM_000334.4(SCN4A):c.3917G>T (p.Gly1306Val)
Allele change: Missense_G1306A

Associated conditions / phenotypes

Potassium-aggravated myotonia|Paramyotonia congenita of Von Eulenburg|Hyperkalemic periodic paralysis|SCN4A-related non-dystrophic myotonia

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.