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Variant (rsID / SNP)

rs143309917

SNTA1

rs143309917 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SNTA1. Location: chromosome 20, position 32,000,149. 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
20:32000149
Cytoband
20q11.21
HGVS
NM_003098.3(SNTA1):c.993C>T (p.Arg331=)
Allele change
Synonymous_R331R

Associated conditions / phenotypes

Congenital long QT syndrome|Long QT syndrome|Cardiovascular phenotype|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.