Variant (rsID / SNP)

rs587777849

rs587777849 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to KCNB1. Location: chromosome 20, position 47,990,976. Clinical significance in the table: Pathogenic.

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Reference-table entries

KCNB1Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 20:47990976
Cytoband: 20q13.13
HGVS: NM_004975.4(KCNB1):c.1121C>T (p.Thr374Ile)
Allele change: Missense_T374I

Associated conditions / phenotypes

Developmental and epileptic encephalopathy, 26

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.