Variant (rsID / SNP)
rs45608232
rs45608232 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ANK2. Location: chromosome 4, position 114,286,315. Clinical significance in the table: Uncertain significance.
Reference-table entries
ANK2Uncertain significance
- Clinical significance (as recorded)
- Uncertain significance
- Variant type
- single nucleotide variant
- Chromosome / position
- 4:114286315
- Cytoband
- 4q26
- HGVS
- NM_001148.6(ANK2):c.11009C>A (p.Thr3670Asn)
- Allele change
- Missense_T1514N
Associated conditions / phenotypes
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.
