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Variant (rsID / SNP)

rs200608452

GRIN2B

rs200608452 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to GRIN2B. Location: chromosome 12, position 14,018,762. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

GRIN2BConflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
12:14018762
Cytoband
12p13.1
HGVS
NM_000834.5(GRIN2B):c.381C>T (p.His127=)
Allele change
Synonymous_H127H

Associated conditions / phenotypes

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

Public references

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.