Variant (rsID / SNP)

rs118047588

rs118047588 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SCN4A. Location: chromosome 17, position 62,020,252. Clinical significance in the table: Uncertain significance.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

SCN4AUncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 17:62020252
Cytoband: 17q23.3
HGVS: NM_000334.4(SCN4A):c.4222C>T (p.Arg1408Cys)
Allele change: Missense_R1408C

Associated conditions / phenotypes

Hyperkalemic periodic paralysis|6 conditions

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.