Variant (rsID / SNP)
rs144158934
rs144158934 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ANK2. Location: chromosome 4, position 114,279,060. 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
- 4:114279060
- Cytoband
- 4q26
- HGVS
- NM_001148.6(ANK2):c.9286A>G (p.Ser3096Gly)
- Allele change
- Silent
Associated conditions / phenotypes
Long QT syndrome|Cardiovascular phenotype|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.