Variant (rsID / SNP)
rs199473505
rs199473505 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to KCNH2. Location: chromosome 7, position 150,654,525. 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
- 7:150654525
- Cytoband
- 7q36.1
- HGVS
- NM_000238.4(KCNH2):c.982C>T (p.Arg328Cys)
- Allele change
- Missense_R328C
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.