Variant (rsID / SNP)
rs41280110
rs41280110 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SCN4A. Location: chromosome 17, position 62,049,749. Clinical significance in the table: Benign/Likely benign.
Reference-table entries
- Clinical significance (as recorded)
- Benign/Likely benign
- Variant type
- single nucleotide variant
- Chromosome / position
- 17:62049749
- Cytoband
- 17q23.3
- HGVS
- NM_000334.4(SCN4A):c.355G>A (p.Val119Ile)
- Allele change
- Missense_V119I
Associated conditions / phenotypes
Congenital myasthenic syndrome 16|Hypokalemic periodic paralysis, type 2|Potassium-aggravated myotonia|Paramyotonia congenita of Von Eulenburg|Hypokalemic periodic paralysis, type 2|Congenital myasthenic syndrome 16|Paramyotonia congenita of Von Eulenburg|Potassium-aggravated myotonia|Hyperkalemic periodic paralysis|Hyperkalemic periodic paralysis
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.