Variant (rsID / SNP)

rs527236150

rs527236150 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SCN4A. Location: chromosome 17, position 62,024,442. 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: 17:62024442
Cytoband: 17q23.3
HGVS: NM_000334.4(SCN4A):c.3404G>A (p.Arg1135His)
Allele change: Missense_R1135H

Associated conditions / phenotypes

Hypokalemic periodic paralysis, type 2|Hyperkalemic periodic paralysis

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.