Variant (rsID / SNP)
rs144888041
rs144888041 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to AKAP9. Location: chromosome 7, position 91,622,303. 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
- 7:91622303
- Cytoband
- 7q21.2
- HGVS
- NM_005751.5(AKAP9):c.510G>C (p.Glu170Asp)
- Allele change
- Missense_E170D
Associated conditions / phenotypes
Long QT syndrome|Cardiovascular phenotype|Congenital long QT syndrome|Brugada syndrome 1|Long QT syndrome 11|Catecholaminergic polymorphic ventricular tachycardia
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.