Variant (rsID / SNP)

rs139963188

rs139963188 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to AKAP9. Location: chromosome 7, position 91,694,701. Clinical significance in the table: Benign/Likely benign.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

AKAP9Benign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 7:91694701
Cytoband: 7q21.2
HGVS: NM_005751.5(AKAP9):c.6134A>G (p.Asn2045Ser)
Allele change: Missense_N2045S

Associated conditions / phenotypes

Long QT syndrome|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.