Variant (rsID / SNP)

rs183029507

rs183029507 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to GRIN2A. Location: chromosome 16, position 9,858,765. 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: 16:9858765
Cytoband: 16p13.2
HGVS: NM_001134407.3(GRIN2A):c.2636A>G (p.Lys879Arg)
Allele change: Missense_K879R

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.