Variant (rsID / SNP)
rs1806201
rs1806201 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to GRIN2B. Location: chromosome 12, position 13,717,508. Clinical significance in the table: Benign.
Reference-table entries
GRIN2BBenign
- Clinical significance (as recorded)
- Benign
- Variant type
- single nucleotide variant
- Chromosome / position
- 12:13717508
- Cytoband
- 12p13.1
- HGVS
- NM_000834.5(GRIN2B):c.2664C>T (p.Thr888=)
- Allele change
- Synonymous_T888T
Associated conditions / phenotypes
History of neurodevelopmental disorder|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.