Variant (rsID / SNP)

rs1064795712

rs1064795712 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to GRIN1. Location: chromosome 9, position 140,057,152. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

GRIN1Conflicting interpretations

Clinical significance (as recorded): Conflicting interpretations of pathogenicity
Variant type: single nucleotide variant
Chromosome / position: 9:140057152
Cytoband: 9q34.3
HGVS: NM_007327.4(GRIN1):c.1974C>G (p.Asp658Glu)
Allele change: Missense_D658E

Associated conditions / phenotypes

GRIN1-Related Disorder

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.