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Variant (rsID / SNP)

rs145176345

GRIN1

rs145176345 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to GRIN1. Location: chromosome 9, position 140,052,867. 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
9:140052867
Cytoband
9q34.3
HGVS
NM_007327.4(GRIN1):c.1005T>C (p.Thr335=)
Allele change
Synonymous_T335T

Associated conditions / phenotypes

History of neurodevelopmental disorder|Intellectual disability, autosomal dominant 8

Public references

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