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Variant (rsID / SNP)

rs80338957

SCN4A

rs80338957 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SCN4A. Location: chromosome 17, position 62,034,787. 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
17:62034787
Cytoband
17q23.3
HGVS
NM_000334.4(SCN4A):c.2111C>T (p.Thr704Met)
Allele change
Missense_T704M

Associated conditions / phenotypes

Hyperkalemic periodic paralysis|Paramyotonia congenita/hyperkalemic periodic paralysis|6 conditions|Sotos syndrome 1|Hypokalemic periodic paralysis, type 2

Public references

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.