Variant (rsID / SNP)
rs200844952
rs200844952 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to AKAP9. Location: chromosome 7, position 91,690,697. 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
- 7:91690697
- Cytoband
- 7q21.2
- HGVS
- NM_005751.5(AKAP9):c.5725G>A (p.Ala1909Thr)
- Allele change
- Missense_A1909T
Associated conditions / phenotypes
Long QT syndrome|Congenital long QT syndrome|Cardiovascular phenotype
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.