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Variant (rsID / SNP)

rs147373250

GRIN2B

rs147373250 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to GRIN2B. Location: chromosome 12, position 13,761,696. 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
12:13761696
Cytoband
12p13.1
HGVS
NM_000834.5(GRIN2B):c.1851C>T (p.Ser617=)
Allele change
Synonymous_S617S

Associated conditions / phenotypes

Developmental and epileptic encephalopathy, 27|Intellectual disability, autosomal dominant 6|Intellectual disability, autosomal dominant 6|History of neurodevelopmental disorder

Public references

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