Variant (rsID / SNP)
rs534185372
rs534185372 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to AKAP9. Location: chromosome 7, position 91,631,708. 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
- 7:91631708
- Cytoband
- 7q21.2
- HGVS
- NM_005751.5(AKAP9):c.2477T>C (p.Ile826Thr)
- Allele change
- Missense_I826T
Associated conditions / phenotypes
Congenital long QT syndrome|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.