Variant (rsID / SNP)
rs144926928
rs144926928 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to KCNH2. Location: chromosome 7, position 150,649,750. Clinical significance in the table: Conflicting interpretations of pathogenicity.
Reference-table entries
KCNH2Conflicting interpretations
- Clinical significance (as recorded)
- Conflicting interpretations of pathogenicity
- Variant type
- single nucleotide variant
- Chromosome / position
- 7:150649750
- Cytoband
- 7q36.1
- HGVS
- NM_000238.4(KCNH2):c.1320G>T (p.Pro440_Pro441=)
- Allele change
- Synonymous_P100P
Associated conditions / phenotypes
Long QT syndrome|Cardiovascular phenotype|Long QT syndrome 2|Cardiac arrhythmia
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.