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Variant (rsID / SNP)

rs34591340

ANK2

rs34591340 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ANK2. Location: chromosome 4, position 114,267,122. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

ANK2Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
4:114267122
Cytoband
4q26
HGVS
NM_001148.6(ANK2):c.4315G>T (p.Gly1439Cys)
Allele change
Missense_G1368C

Associated conditions / phenotypes

Cardiovascular phenotype|Long QT syndrome|Cardiomyopathy|Hypertrophic cardiomyopathy|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.