Variant (rsID / SNP)

rs200628845

rs200628845 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ANK2. Location: chromosome 4, position 114,275,014. Clinical significance in the table: Likely benign.

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Reference-table entries

ANK2Likely benign

Clinical significance (as recorded): Likely benign
Variant type: single nucleotide variant
Chromosome / position: 4:114275014
Cytoband: 4q26
HGVS: NM_001148.6(ANK2):c.5240C>G (p.Pro1747Arg)
Allele change: Silent

Associated conditions / phenotypes

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

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.