Variant (rsID / SNP)

rs2230768

rs2230768 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to AKAP9. Location: chromosome 7, position 91,670,136. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

AKAP9Benign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 7:91670136
Cytoband: 7q21.2
HGVS: NM_005751.5(AKAP9):c.4841G>A (p.Arg1614Gln)
Allele change: Missense_R1614P

Associated conditions / phenotypes

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

Public references

dbSNP
ClinVar
Ensembl
gnomAD

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