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Variant (rsID / SNP)

rs797045047

GRIN1

rs797045047 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to GRIN1. Location: chromosome 9, position 140,056,962. Clinical significance in the table: Pathogenic/Likely pathogenic.

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Reference-table entries

GRIN1Pathogenic
Clinical significance (as recorded)
Pathogenic/Likely pathogenic
Variant type
single nucleotide variant
Chromosome / position
9:140056962
Cytoband
9q34.3
HGVS
NM_007327.4(GRIN1):c.1858G>C (p.Gly620Arg)
Allele change
Missense_G620R

Associated conditions / phenotypes

Intellectual disability, autosomal dominant 8|Inborn genetic diseases|Seizure

Public references

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.