Variant (rsID / SNP)

rs112735799

rs112735799 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to KCNB1. Location: chromosome 20, position 47,990,260. Clinical significance in the table: Benign.

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Reference-table entries

KCNB1Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 20:47990260
Cytoband: 20q13.13
HGVS: NM_004975.4(KCNB1):c.1837C>T (p.Pro613Ser)
Allele change: Missense_P613S

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.