Variant (rsID / SNP)
rs56157422
rs56157422 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SNTA1. Location: chromosome 20, position 32,000,520. 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
- 20:32000520
- Cytoband
- 20q11.21
- HGVS
- NM_003098.3(SNTA1):c.770C>G (p.Ala257Gly)
- Allele change
- Missense_A257G
Associated conditions / phenotypes
Long QT syndrome|Long QT syndrome 12|Cardiovascular phenotype|Long QT syndrome 1
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.