Variant (rsID / SNP)
rs199473544
rs199473544 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to KCNH2. Location: chromosome 7, position 150,644,456. 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
- 7:150644456
- Cytoband
- 7q36.1
- HGVS
- NM_000238.4(KCNH2):c.3112G>A (p.Val1038Met)
- Allele change
- Missense_V698M
Associated conditions / phenotypes
Congenital long QT syndrome|Long QT syndrome 2|Long QT syndrome|Cardiac arrhythmia
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.