Variant (rsID / SNP)

rs140573925

rs140573925 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to GRIN2B. Location: chromosome 12, position 13,717,346. Clinical significance in the table: Likely benign.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

GRIN2BLikely benign

Clinical significance (as recorded): Likely benign
Variant type: single nucleotide variant
Chromosome / position: 12:13717346
Cytoband: 12p13.1
HGVS: NM_000834.5(GRIN2B):c.2826G>A (p.Thr942=)
Allele change: Synonymous_T942T

Associated conditions / phenotypes

Developmental and epileptic encephalopathy, 27|Intellectual disability, autosomal dominant 6

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.