Variant (rsID / SNP)
rs61750240
rs61750240 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
- Clinical significance (as recorded)
- Pathogenic
- Variant type
- single nucleotide variant
- Cytoband
- Xq28
- HGVS
- NM_001110792.2(MECP2):c.844C>T (p.Arg282Ter)
- Allele change
- Nonsense_R270X
Associated conditions / phenotypes
Rett syndrome|Encephalopathy, neonatal severeMental retardation, X-linked, syndromic 13Rett syndrome|Severe neonatal-onset encephalopathy with microcephaly|Syndromic X-linked intellectual disability Lubs type|Autism, susceptibility to, X-linked 3|Severe neonatal-onset encephalopathy with microcephaly|X-linked intellectual disability-psychosis-macroorchidism syndrome|Rett syndrome|Inborn genetic diseases|Autism, susceptibility to, X-linked 3|Syndromic X-linked intellectual disability Lubs type
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.