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Variant (rsID / SNP)

rs145063086

GRIN2A

rs145063086 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to GRIN2A. Location: chromosome 16, position 9,857,574. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

GRIN2AConflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
16:9857574
Cytoband
16p13.2
HGVS
NM_001134407.3(GRIN2A):c.3827C>G (p.Ala1276Gly)
Allele change
Silent

Associated conditions / phenotypes

Landau-Kleffner syndrome|Focal epilepsy|History of neurodevelopmental disorder

Public references

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