Variant (rsID / SNP)

rs2229193

rs2229193 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to GRIN2A. Location: chromosome 16, position 9,943,666. Clinical significance in the table: Benign.

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Reference-table entries

GRIN2ABenign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 16:9943666
Cytoband: 16p13.2
HGVS: NM_001134407.3(GRIN2A):c.1275G>A (p.Leu425=)
Allele change: Synonymous_L425L

Associated conditions / phenotypes

Landau-Kleffner syndrome|History of neurodevelopmental disorder

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.