Variant (rsID / SNP)

rs180843436

rs180843436 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ANK2. Location: chromosome 4, position 114,282,005. 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: 4:114282005
Cytoband: 4q26
HGVS: NM_001148.6(ANK2):c.10708G>A (p.Glu3570Lys)
Allele change: Missense_E1414K

Associated conditions / phenotypes

Congenital long QT syndrome|Catecholaminergic polymorphic ventricular tachycardia 1|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.