Variant (rsID / SNP)

rs1126442

rs1126442 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to GRIN1. Location: chromosome 9, position 140,051,376. Clinical significance in the table: Benign.

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Reference-table entries

GRIN1Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 9:140051376
Cytoband: 9q34.3
HGVS: NM_007327.4(GRIN1):c.855G>A (p.Val285=)
Allele change: Synonymous_V285V

Associated conditions / phenotypes

History of neurodevelopmental disorder|Intellectual disability, autosomal dominant 8|Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal recessive

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.