Variant (rsID / SNP)

rs189384622

rs189384622 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to GRIN2B. Location: chromosome 12, position 13,720,076. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

GRIN2BBenign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 12:13720076
Cytoband: 12p13.1
HGVS: NM_000834.5(GRIN2B):c.2481G>A (p.Ala827=)
Allele change: Synonymous_A827A

Associated conditions / phenotypes

Developmental and epileptic encephalopathy, 27|Intellectual disability, autosomal dominant 6|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.