Variant (rsID / SNP)

rs3025962

rs3025962 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to RELN. Location: chromosome 7, position 103,251,218. Clinical significance in the table: Benign.

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Reference-table entries

RELNBenign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 7:103251218
Cytoband: 7q22.1
HGVS: NM_005045.4(RELN):c.2932A>G (p.Thr978Ala)
Allele change: Missense_T978A

Associated conditions / phenotypes

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

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.