Variant (rsID / SNP)
rs528909081
rs528909081 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ANK2. Location: chromosome 4, position 114,278,155. Clinical significance in the table: Conflicting interpretations of pathogenicity.
Reference-table entries
ANK2Conflicting interpretations
- Clinical significance (as recorded)
- Conflicting interpretations of pathogenicity
- Variant type
- single nucleotide variant
- Chromosome / position
- 4:114278155
- Cytoband
- 4q26
- HGVS
- NM_001148.6(ANK2):c.8381A>G (p.Gln2794Arg)
- Allele change
- Silent
Associated conditions / phenotypes
Long QT syndrome|Cardiac arrhythmia, ankyrin-B-related
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.
