Variant (rsID / SNP)
rs121908547
rs121908547 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SCN4A. Location: chromosome 17, position 62,021,185. Clinical significance in the table: Pathogenic.
Reference-table entries
SCN4APathogenic
- Clinical significance (as recorded)
- Pathogenic
- Variant type
- single nucleotide variant
- Chromosome / position
- 17:62021185
- Cytoband
- 17q23.3
- HGVS
- NM_000334.4(SCN4A):c.3938C>T (p.Thr1313Met)
- Allele change
- Missense_T1313M
Associated conditions / phenotypes
Paramyotonia congenita of Von Eulenburg|Hyperkalemic periodic paralysis|6 conditions|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.