Variant (rsID / SNP)
rs201048693
rs201048693 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to AKAP9. Location: chromosome 7, position 91,726,036. 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
- 7:91726036
- Cytoband
- 7q21.2
- HGVS
- NM_005751.5(AKAP9):c.9763A>G (p.Arg3255Gly)
- Allele change
- Missense_R3247G
Associated conditions / phenotypes
Long QT syndrome|Cardiomyopathy|Cardiovascular phenotype|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.