Variant (rsID / SNP)

rs45454496

rs45454496 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ANK2. Location: chromosome 4, position 114,294,537. Clinical significance in the table: Benign/Likely benign.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

ANK2Benign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 4:114294537
Cytoband: 4q26
HGVS: NM_001148.6(ANK2):c.11791G>A (p.Glu3931Lys)
Allele change: Missense_E1775K

Associated conditions / phenotypes

Cardiac arrhythmia, ankyrin-B-related|Cardiovascular phenotype|Ventricular fibrillation|Long QT syndrome|Cardiac arrhythmia

Public references

dbSNP
ClinVar
Ensembl
gnomAD

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.