Variant (rsID / SNP)

rs137852352

rs137852352 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to GRIA3. Clinical significance in the table: Pathogenic.

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Reference-table entries

GRIA3Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Cytoband: Xq25
HGVS: NM_007325.5(GRIA3):c.2117T>C (p.Met706Thr)
Allele change: Missense_M706T

Associated conditions / phenotypes

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.