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Variant (rsID / SNP)

rs121434500

SNTA1

rs121434500 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SNTA1. Location: chromosome 20, position 31,998,009. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

SNTA1Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
20:31998009
Cytoband
20q11.21
HGVS
NM_003098.3(SNTA1):c.1169C>T (p.Ala390Val)
Allele change
Missense_A390V

Associated conditions / phenotypes

Long QT syndrome 12|Long QT syndrome|Atrial fibrillation

Public references

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.