Variant (rsID / SNP)
rs199473603
rs199473603 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SCN5A. Location: chromosome 3, position 38,603,958. Clinical significance in the table: Conflicting interpretations of pathogenicity.
Reference-table entries
SCN5AConflicting interpretations
- Clinical significance (as recorded)
- Conflicting interpretations of pathogenicity
- Variant type
- single nucleotide variant
- Chromosome / position
- 3:38603958
- Cytoband
- 3p22.2
- HGVS
- NM_000335.5(SCN5A):c.3908C>T (p.Thr1303Met)
- Allele change
- Missense_T1250M
Associated conditions / phenotypes
Congenital long QT syndrome|Long QT syndrome|Brugada syndrome|Long QT syndrome 3|Cardiovascular phenotype|Brugada syndrome 1|Conduction disorder of the heart|Sick sinus syndrome 1|Cardiac arrhythmia
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.