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Variant (rsID / SNP)

rs121912705

ANK2

rs121912705 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ANK2. Location: chromosome 4, position 114,288,920. 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
4:114288920
Cytoband
4q26
HGVS
NM_001148.6(ANK2):c.11231C>A (p.Thr3744Asn)
Allele change
Missense_T1588N

Associated conditions / phenotypes

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

Public references

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.