Variant (rsID / SNP)
rs144875383
rs144875383 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to AKAP9. Location: chromosome 7, position 91,712,609. Clinical significance in the table: Conflicting interpretations of pathogenicity.
Reference-table entries
AKAP9Conflicting interpretations
- Clinical significance (as recorded)
- Conflicting interpretations of pathogenicity
- Variant type
- single nucleotide variant
- Chromosome / position
- 7:91712609
- Cytoband
- 7q21.2
- HGVS
- NM_005751.5(AKAP9):c.8286A>C (p.Lys2762Asn)
- Allele change
- Missense_K2754N
Associated conditions / phenotypes
Cardiovascular phenotype|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.