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Variant (rsID / SNP)

rs786205232

KCNA2

rs786205232 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to KCNA2. Location: chromosome 1, position 111,146,515. Clinical significance in the table: Pathogenic.

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Reference-table entries

KCNA2Pathogenic
Clinical significance (as recorded)
Pathogenic
Variant type
single nucleotide variant
Chromosome / position
1:111146515
Cytoband
1p13.3
HGVS
NM_004974.4(KCNA2):c.890G>A (p.Arg297Gln)
Allele change
Missense_R297Q

Associated conditions / phenotypes

Developmental and epileptic encephalopathy, 32|Inborn genetic diseases|Developmental and epileptic encephalopathy, 1|Neurodevelopmental disorder

Public references

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