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Variant (rsID / SNP)

rs397518465

GRIN2A

rs397518465 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to GRIN2A. Location: chromosome 16, position 10,031,815. Clinical significance in the table: Pathogenic/Likely pathogenic.

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Reference-table entries

GRIN2APathogenic
Clinical significance (as recorded)
Pathogenic/Likely pathogenic
Variant type
single nucleotide variant
Chromosome / position
16:10031815
Cytoband
16p13.2
HGVS
NM_001134407.3(GRIN2A):c.1007+1G>A
Allele change
Silent

Associated conditions / phenotypes

Landau-Kleffner syndrome|Childhood epilepsy with centrotemporal spikes|Abnormal cerebral morphology

Public references

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.