Variant (rsID / SNP)
rs80338958
rs80338958 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SCN4A. Location: chromosome 17, position 62,022,974. Clinical significance in the table: Pathogenic/Likely pathogenic.
Reference-table entries
SCN4APathogenic
- Clinical significance (as recorded)
- Pathogenic/Likely pathogenic
- Variant type
- single nucleotide variant
- Chromosome / position
- 17:62022974
- Cytoband
- 17q23.3
- HGVS
- NM_000334.4(SCN4A):c.3466G>A (p.Ala1156Thr)
- Allele change
- Missense_A1156T
Associated conditions / phenotypes
Paramyotonia congenita/hyperkalemic periodic paralysis|Hyperkalemic periodic paralysis|Focal-onset seizure
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.