Variant (rsID / SNP)

rs140606121

rs140606121 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ANK2. Location: chromosome 4, position 114,290,945. 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: 4:114290945
Cytoband: 4q26
HGVS: NM_001148.6(ANK2):c.11594A>G (p.Asp3865Gly)
Allele change: Missense_D1709G

Associated conditions / phenotypes

Long QT syndrome|Cardiovascular phenotype

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.