Variant (rsID / SNP)
rs502434
rs502434 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to GRIA3. Clinical significance in the table: Benign.
Reference-table entries
GRIA3Benign
- Clinical significance (as recorded)
- Benign
- Variant type
- single nucleotide variant
- Cytoband
- Xq25
- HGVS
- NM_007325.5(GRIA3):c.1200T>C (p.Asn400=)
- Allele change
- Synonymous_N400N
Associated conditions / phenotypes
History of neurodevelopmental disorder|Syndromic X-linked intellectual disability 94
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.
