Variant (rsID / SNP)
rs61748421
rs61748421 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.538C>T (p.Arg180Ter)
- Allele change
- Nonsense_R168X
Associated conditions / phenotypes
Rett syndrome|Intellectual disability|Severe neonatal-onset encephalopathy with microcephaly|Global developmental delay|Developmental regression|History of neurodevelopmental disorder
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.