Variant (rsID / SNP)

rs372083517

rs372083517 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to GRIN2A. Location: chromosome 16, position 9,857,699. 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: 16:9857699
Cytoband: 16p13.2
HGVS: NM_001134407.3(GRIN2A):c.3702C>T (p.Phe1234=)
Allele change: Synonymous_F1234F

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.