Variant (rsID / SNP)

rs78631453

rs78631453 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to GRIN2A. Location: chromosome 16, position 10,032,401. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

GRIN2ABenign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 16:10032401
Cytoband: 16p13.2
HGVS: NM_001134407.3(GRIN2A):c.422C>T (p.Thr141Met)
Allele change: Missense_T141M

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.