Variant (rsID / SNP)

rs886041761

rs886041761 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to KCNA2. Location: chromosome 1, position 111,146,524. Clinical significance in the table: Pathogenic/Likely pathogenic.

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Reference-table entries

KCNA2Pathogenic

Clinical significance (as recorded): Pathogenic/Likely pathogenic
Variant type: single nucleotide variant
Chromosome / position: 1:111146524
Cytoband: 1p13.3
HGVS: NM_004974.4(KCNA2):c.881G>A (p.Arg294His)
Allele change: Missense_R294H

Associated conditions / phenotypes

Inborn genetic diseases|Developmental and epileptic encephalopathy, 32

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.