Variant (rsID / SNP)
rs80338956
rs80338956 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SCN4A. Location: chromosome 17, position 62,034,820. Clinical significance in the table: Pathogenic.
Reference-table entries
SCN4APathogenic
- Clinical significance (as recorded)
- Pathogenic
- Variant type
- single nucleotide variant
- Chromosome / position
- 17:62034820
- Cytoband
- 17q23.3
- HGVS
- NM_000334.4(SCN4A):c.2078T>C (p.Ile693Thr)
- Allele change
- Missense_I693T
Associated conditions / phenotypes
Paramyotonia congenita of Von Eulenburg|Hyperkalemic periodic paralysis|SCN4A-related non-dystrophic myotonia
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.