Variant (rsID / SNP)
rs146883958
rs146883958 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to KCNH5. Location: chromosome 14, position 63,417,122. Clinical significance in the table: Benign.
Reference-table entries
KCNH5Benign
- Clinical significance (as recorded)
- Benign
- Variant type
- single nucleotide variant
- Chromosome / position
- 14:63417122
- Cytoband
- 14q23.2
- HGVS
- NM_139318.5(KCNH5):c.1098A>G (p.Ile366Met)
- Allele change
- Missense_I366M
Associated conditions / phenotypes
Early infantile epileptic encephalopathy with suppression bursts
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.