Variant (rsID / SNP)
rs17215437
rs17215437 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to LIPT2, KCNE3. Location: chromosome 11, position 74,168,361. Clinical significance in the table: Conflicting interpretations of pathogenicity.
Reference-table entries
LIPT2Conflicting interpretations
- Clinical significance (as recorded)
- Conflicting interpretations of pathogenicity
- Variant type
- single nucleotide variant
- Chromosome / position
- 11:74168361
- Cytoband
- 11q13.4
- HGVS
- NM_005472.5(KCNE3):c.248G>A (p.Arg83His)
- Allele change
- Missense_R83H
Associated conditions / phenotypes
Periodic paralysis|Cardiovascular phenotype|Syncope|Ventricular fibrillation|Brugada syndrome 6|Cardiomyopathy|Encephalopathy, neonatal severe, with lactic acidosis and brain abnormalities
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.