Variant (rsID / SNP)
rs146964054
rs146964054 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ANK2. Location: chromosome 4, position 114,117,535. 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
- 4:114117535
- Cytoband
- 4q25
- HGVS
- NM_001148.6(ANK2):c.198C>T (p.Asn66=)
- Allele change
- Synonymous_N62N
Associated conditions / phenotypes
Long QT syndrome|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.