Variant (rsID / SNP)
rs35938843
rs35938843 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SNTA1. Location: chromosome 20, position 32,000,462. Clinical significance in the table: Conflicting interpretations of pathogenicity.
Reference-table entries
SNTA1Conflicting interpretations
- Clinical significance (as recorded)
- Conflicting interpretations of pathogenicity
- Variant type
- single nucleotide variant
- Chromosome / position
- 20:32000462
- Cytoband
- 20q11.21
- HGVS
- NM_003098.3(SNTA1):c.828G>A (p.Lys276=)
- Allele change
- Synonymous_K276K
Associated conditions / phenotypes
Long QT syndrome|Cardiovascular phenotype|Congenital long QT syndrome|Long QT syndrome 12
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.
