Variant (rsID / SNP)

rs61996330

rs61996330 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to GRIK2. Location: chromosome 6, position 102,134,167. Clinical significance in the table: Uncertain significance.

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Reference-table entries

GRIK2Uncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 6:102134167
Cytoband: 6q16.3
HGVS: NM_021956.5(GRIK2):c.890C>G (p.Ser297Trp)
Allele change: Missense_S297W

Associated conditions / phenotypes

Intellectual disability

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.