Variant (rsID / SNP)
rs61751362
rs61751362 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.916C>T (p.Arg306Ter)
- Allele change
- Nonsense_R294X
Associated conditions / phenotypes
Autism, susceptibility to, X-linked 3|Rett syndrome|Severe neonatal-onset encephalopathy with microcephaly|Rett syndrome|Syndromic X-linked intellectual disability Lubs type|Severe neonatal-onset encephalopathy with microcephaly|Autism, susceptibility to, X-linked 3|X-linked intellectual disability-psychosis-macroorchidism syndrome|Inborn genetic diseases|See cases
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.