Variant (rsID / SNP)

rs200124480

rs200124480 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ANK2. Location: chromosome 4, position 114,251,488. Clinical significance in the table: Uncertain significance.

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Reference-table entries

ANK2Uncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 4:114251488
Cytoband: 4q26
HGVS: NM_001148.6(ANK2):c.2987G>A (p.Arg996Gln)
Allele change: Missense_R925Q

Associated conditions / phenotypes

Cardiovascular phenotype|Long QT syndrome

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.