Variant (rsID / SNP)
rs199473039
rs199473039 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to KCNH2. Location: chromosome 7, position 150,648,600. The table records no clinical significance for this variant.
Reference-table entries
KCNH2Not classified
- Variant type
- single nucleotide variant
- Chromosome / position
- 7:150648600
- Cytoband
- 7q36.1
- HGVS
- NM_000238.4(KCNH2):c.1881C>G (p.Phe627Leu)
- Allele change
- Missense_F287L
Associated conditions / phenotypes
Congenital long QT syndrome
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.