Variant (rsID / SNP)

rs36004050

rs36004050 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to KCNH5. Location: chromosome 14, position 63,175,105. Clinical significance in the table: Benign.

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Reference-table entries

KCNH5Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 14:63175105
Cytoband: 14q23.2
HGVS: NM_139318.5(KCNH5):c.2088G>A (p.Val696=)
Allele change: Silent

Associated conditions / phenotypes

Early infantile epileptic encephalopathy with suppression bursts

Public references

dbSNP
ClinVar
Ensembl
gnomAD

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.