Variant (rsID / SNP)
rs28934906
rs28934906 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MECP2. Clinical significance in the table: Pathogenic/Likely pathogenic.
Reference-table entries
- Clinical significance (as recorded)
- Pathogenic/Likely pathogenic
- Variant type
- single nucleotide variant
- Cytoband
- Xq28
- HGVS
- NM_001110792.2(MECP2):c.509C>T (p.Thr170Met)
- Allele change
- Missense_T158M
Associated conditions / phenotypes
Rett syndrome|Angelman syndrome|Severe neonatal-onset encephalopathy with microcephaly|Autism, susceptibility to, X-linked 3|Inborn genetic diseases|History of neurodevelopmental disorder|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|Abnormality of the nervous system|X-linked intellectual disability-psychosis-macroorchidism syndrome|Neurodevelopmental delay
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.