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Variant (rsID / SNP)

rs145005918

GRIN2B

rs145005918 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to GRIN2B. Location: chromosome 12, position 13,717,469. 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
12:13717469
Cytoband
12p13.1
HGVS
NM_000834.5(GRIN2B):c.2703G>A (p.Leu901=)
Allele change
Synonymous_L901L

Associated conditions / phenotypes

Developmental and epileptic encephalopathy, 27|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.