Variant (rsID / SNP)
rs121912504
rs121912504 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to KCNH2. Location: chromosome 7, position 150,648,799. Clinical significance in the table: Pathogenic/Likely pathogenic.
Reference-table entries
KCNH2Pathogenic
- Clinical significance (as recorded)
- Pathogenic/Likely pathogenic
- Variant type
- single nucleotide variant
- Chromosome / position
- 7:150648799
- Cytoband
- 7q36.1
- HGVS
- NM_000238.4(KCNH2):c.1682C>T (p.Ala561Val)
- Allele change
- Missense_A221V
Associated conditions / phenotypes
Long QT syndrome 2|Congenital long QT syndrome|Long QT syndrome|Cardiovascular phenotype|Prolonged QT interval|Obesity
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.