Variant (rsID / SNP)
rs45465995
rs45465995 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SCN5A. Location: chromosome 3, position 38,592,174. 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
- 3:38592174
- Cytoband
- 3p22.2
- HGVS
- NM_000335.5(SCN5A):c.5686C>T (p.Arg1896Trp)
- Allele change
- Missense_R1843W
Associated conditions / phenotypes
Long QT syndrome|Brugada syndrome|8 conditions|Primary dilated cardiomyopathy|Brugada 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.