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Variant (rsID / SNP)

rs139046510

AKAP9

rs139046510 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to AKAP9. Location: chromosome 7, position 91,727,479. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

AKAP9Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
7:91727479
Cytoband
7q21.2
HGVS
NM_005751.5(AKAP9):c.10664A>T (p.Asp3555Val)
Allele change
Missense_D3547V

Associated conditions / phenotypes

Cardiovascular phenotype|Long QT syndrome|Congenital long QT syndrome|Long QT syndrome 11

Public references

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