Variant (rsID / SNP)
rs121912706
rs121912706 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ANK2. Location: chromosome 4, position 114,294,462. Clinical significance in the table: Conflicting interpretations of pathogenicity.
Reference-table entries
ANK2Conflicting interpretations
- Clinical significance (as recorded)
- Conflicting interpretations of pathogenicity
- Variant type
- single nucleotide variant
- Chromosome / position
- 4:114294462
- Cytoband
- 4q26
- HGVS
- NM_001148.6(ANK2):c.11716C>T (p.Arg3906Trp)
- Allele change
- Missense_R1750W
Associated conditions / phenotypes
Long QT syndrome 4|Death in infancy|Cardiovascular phenotype|Cardiomyopathy|Long QT syndrome|Cardiac arrhythmia, ankyrin-B-related|Cardiac arrhythmia
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.