Genetics University — Research, Education, Medical Genetics
Knowledge Hub

Variant (rsID / SNP)

rs45570339

ANK2

rs45570339 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ANK2. Location: chromosome 4, position 114,284,598. Clinical significance in the table: Conflicting interpretations of pathogenicity.

ShareE-MailWhatsAppLinkedInXFacebookTelegram

Reference-table entries

ANK2Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
4:114284598
Cytoband
4q26
HGVS
NM_001148.6(ANK2):c.10861C>G (p.Leu3621Val)
Allele change
Missense_L1465V

Associated conditions / phenotypes

Congenital long QT syndrome|Long QT syndrome|Cardiovascular phenotype|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.