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Variant (rsID / SNP)

rs199710029

GRIN2B

rs199710029 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to GRIN2B. Location: chromosome 12, position 13,717,544. 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
12:13717544
Cytoband
12p13.1
HGVS
NM_000834.5(GRIN2B):c.2628G>A (p.Ala876=)
Allele change
Synonymous_A876A

Associated conditions / phenotypes

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

Public references

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