Variant (rsID / SNP)
rs61750239
rs61750239 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MECP2. Clinical significance in the table: Uncertain significance.
Reference-table entries
MECP2Uncertain significance
- Clinical significance (as recorded)
- Uncertain significance
- Variant type
- single nucleotide variant
- Cytoband
- Xq28
- HGVS
- NM_001110792.2(MECP2):c.838C>T (p.Arg280Trp)
- Allele change
- Missense_R268W
Associated conditions / phenotypes
Severe neonatal-onset encephalopathy with microcephaly|Rett syndrome|Severe neonatal-onset encephalopathy with microcephaly|Syndromic X-linked intellectual disability Lubs type|Autism, susceptibility to, X-linked 3|X-linked intellectual disability-psychosis-macroorchidism syndrome|X-linked intellectual disability-psychosis-macroorchidism syndrome|Rett syndrome
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.