Variant (rsID / SNP)

rs147352060

rs147352060 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SCN4A. Location: chromosome 17, position 62,049,954. 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: 17:62049954
Cytoband: 17q23.3
HGVS: NM_000334.4(SCN4A):c.248T>C (p.Leu83Pro)
Allele change: Missense_L83P

Associated conditions / phenotypes

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.