Variant (rsID / SNP)
rs139770404
rs139770404 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to AKAP9. Location: chromosome 7, position 91,695,779. 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
- 7:91695779
- Cytoband
- 7q21.2
- HGVS
- NM_005751.5(AKAP9):c.6249C>T (p.Phe2083=)
- Allele change
- Synonymous_F2083F
Associated conditions / phenotypes
Long QT syndrome|Cardiovascular phenotype|Congenital 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.