Variant (rsID / SNP)
rs199472894
rs199472894 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to KCNH2. Location: chromosome 7, position 150,649,808. 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
- 7:150649808
- Cytoband
- 7q36.1
- HGVS
- NM_000238.4(KCNH2):c.1262C>T (p.Thr421Met)
- Allele change
- Missense_T81M
Associated conditions / phenotypes
Congenital long QT syndrome|Long QT syndrome
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.