Variant (rsID / SNP)

rs139990565

rs139990565 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to GRIA3. Clinical significance in the table: Likely pathogenic.

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Reference-table entries

GRIA3Likely pathogenic

Clinical significance (as recorded): Likely pathogenic
Variant type: single nucleotide variant
Cytoband: Xq25
HGVS: NM_007325.5(GRIA3):c.646C>T (p.Arg216Ter)
Allele change: Synonymous_R216R

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.