Variant (rsID / SNP)

rs138817389

rs138817389 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to GRIA3. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

GRIA3Benign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Cytoband: Xq25
HGVS: NM_007325.5(GRIA3):c.1181G>A (p.Arg394Gln)
Allele change: Missense_R394Q

Associated conditions / phenotypes

History of neurodevelopmental disorder|Syndromic X-linked intellectual disability 94

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.