Variant (rsID / SNP)
rs199472999
rs199472999 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to KCNH2. Location: chromosome 7, position 150,646,122. Clinical significance in the table: Pathogenic.
Reference-table entries
KCNH2Pathogenic
- Clinical significance (as recorded)
- Pathogenic
- Variant type
- single nucleotide variant
- Chromosome / position
- 7:150646122
- Cytoband
- 7q36.1
- HGVS
- NM_000238.4(KCNH2):c.2414T>C (p.Phe805Ser)
- Allele change
- Missense_F465S
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.