Variant (rsID / SNP)

rs750774547

rs750774547 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ANK2. Location: chromosome 4, position 114,279,372. Clinical significance in the table: Likely benign.

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Reference-table entries

ANK2Likely benign

Clinical significance (as recorded): Likely benign
Variant type: single nucleotide variant
Chromosome / position: 4:114279372
Cytoband: 4q26
HGVS: NM_001148.6(ANK2):c.9598C>T (p.Leu3200Phe)
Allele change: Silent

Associated conditions / phenotypes

Long QT syndrome|Cardiovascular phenotype|Hypertrophic cardiomyopathy

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.