Variant (rsID / SNP)
rs137854610
rs137854610 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SCN5A. Location: chromosome 3, position 38,592,386. Clinical significance in the table: Uncertain significance.
Reference-table entries
SCN5AUncertain significance
- Clinical significance (as recorded)
- Uncertain significance
- Variant type
- single nucleotide variant
- Chromosome / position
- 3:38592386
- Cytoband
- 3p22.2
- HGVS
- NM_000335.5(SCN5A):c.5474G>A (p.Arg1825His)
- Allele change
- Missense_R1772H
Associated conditions / phenotypes
Long QT syndrome 3|Congenital long QT syndrome|SUDDEN INFANT DEATH SYNDROME|Brugada syndrome|Cardiovascular phenotype|Cardiac arrhythmia
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.