Variant (rsID / SNP)

rs34270799

rs34270799 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ANK2. Location: chromosome 4, position 114,279,674. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

ANK2Benign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 4:114279674
Cytoband: 4q26
HGVS: NM_001148.6(ANK2):c.9900C>A (p.Ser3300Arg)
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.