Variant (rsID / SNP)

rs75783429

rs75783429 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to GRIN1. Location: chromosome 9, position 140,056,456. 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: 9:140056456
Cytoband: 9q34.3
HGVS: NM_007327.4(GRIN1):c.1548G>A (p.Pro516=)
Allele change: Synonymous_P516P

Associated conditions / phenotypes

Intellectual disability, autosomal dominant 8|History of neurodevelopmental 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.