Variant (rsID / SNP)
rs28935468
rs28935468 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MECP2. Clinical significance in the table: Pathogenic.
Reference-table entries
MECP2Pathogenic
- Clinical significance (as recorded)
- Pathogenic
- Variant type
- single nucleotide variant
- Cytoband
- Xq28
- HGVS
- NM_001110792.2(MECP2):c.952C>T (p.Arg318Cys)
- Allele change
- Missense_R306C
Associated conditions / phenotypes
Rett syndrome|Angelman syndrome|Intellectual disability|Severe neonatal-onset encephalopathy with microcephaly|Autism, susceptibility to, X-linked 3|See cases|Neurodevelopmental delay
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.