Variant (rsID / SNP)

rs876661219

rs876661219 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to GRIN2B. Location: chromosome 12, position 13,724,825. Clinical significance in the table: Pathogenic/Likely pathogenic.

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Reference-table entries

GRIN2BPathogenic

Clinical significance (as recorded): Pathogenic/Likely pathogenic
Variant type: single nucleotide variant
Chromosome / position: 12:13724825
Cytoband: 12p13.1
HGVS: NM_000834.5(GRIN2B):c.2084T>C (p.Ile695Thr)
Allele change: Missense_I695T

Associated conditions / phenotypes

Ataxia|intellectual deficiency|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.