Variant (rsID / SNP)
rs1806191
rs1806191 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to GRIN2B. Location: chromosome 12, position 13,716,638. Clinical significance in the table: Benign.
Reference-table entries
GRIN2BBenign
- Clinical significance (as recorded)
- Benign
- Variant type
- single nucleotide variant
- Chromosome / position
- 12:13716638
- Cytoband
- 12p13.1
- HGVS
- NM_000834.5(GRIN2B):c.3534C>T (p.His1178=)
- Allele change
- Synonymous_H1178H
Associated conditions / phenotypes
History of neurodevelopmental disorder|Intellectual disability, autosomal dominant 6|Developmental and epileptic encephalopathy, 27|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.