Variant (rsID / SNP)

rs45600931

rs45600931 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to GRIN2B. Location: chromosome 12, position 13,716,674. Clinical significance in the table: Benign.

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Reference-table entries

GRIN2BBenign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 12:13716674
Cytoband: 12p13.1
HGVS: NM_000834.5(GRIN2B):c.3498C>T (p.Ser1166=)
Allele change: Synonymous_S1166S

Associated conditions / phenotypes

Intellectual disability, autosomal dominant 6|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.