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Variant (rsID / SNP)

rs375607705

SCN4A

rs375607705 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SCN4A. Location: chromosome 17, position 62,020,349. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

SCN4AConflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
17:62020349
Cytoband
17q23.3
HGVS
NM_000334.4(SCN4A):c.4125C>T (p.Asp1375=)
Allele change
Synonymous_D1375D

Associated conditions / phenotypes

Congenital myasthenic syndrome 16|Paramyotonia congenita of Von Eulenburg|Hyperkalemic periodic paralysis|Potassium-aggravated myotonia|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.