Variant (rsID / SNP)

rs114684479

rs114684479 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to RELN. Location: chromosome 7, position 103,236,965. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

RELNBenign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 7:103236965
Cytoband: 7q22.1
HGVS: NM_005045.4(RELN):c.3477C>A (p.Asn1159Lys)
Allele change: Missense_N1159K

Associated conditions / phenotypes

Childhood epilepsy with centrotemporal spikes|Norman-Roberts syndrome|Familial temporal lobe epilepsy 7|Norman-Roberts syndrome

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.