Variant (rsID / SNP)

rs869025343

rs869025343 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to NONO. Clinical significance in the table: Pathogenic.

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Reference-table entries

NONOPathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Cytoband: Xq13.1
HGVS: NM_007363.5(NONO):c.1131G>A (p.Ala377=)
Allele change: Silent

Associated conditions / phenotypes

Syndromic X-linked intellectual disability 34|Inborn genetic diseases

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.