Variant (rsID / SNP)

rs34487963

rs34487963 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SIK1. Location: chromosome 21, position 44,838,330. Clinical significance in the table: Benign.

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Reference-table entries

SIK1Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 21:44838330
Cytoband: 21q22.3
HGVS: NM_173354.5(SIK1):c.1554G>T (p.Ala518=)
Allele change: Synonymous_A518A

Associated conditions / phenotypes

Developmental and epileptic encephalopathy, 30|Seizure

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.