Variant (rsID / SNP)

rs397518470

rs397518470 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to GRIN2A. Location: chromosome 16, position 9,934,602. 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: 16:9934602
Cytoband: 16p13.2
HGVS: NM_001134407.3(GRIN2A):c.1553G>A (p.Arg518His)
Allele change: Missense_R518H

Associated conditions / phenotypes

Landau-Kleffner 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.