Variant (rsID / SNP)
rs61748390
rs61748390 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
MECP2Pathogenic
- Clinical significance (as recorded)
- Pathogenic/Likely pathogenic
- Variant type
- single nucleotide variant
- Cytoband
- Xq28
- HGVS
- NM_001110792.2(MECP2):c.437C>G (p.Ser146Cys)
- Allele change
- Missense_S134C
Associated conditions / phenotypes
Rett syndrome|Severe neonatal-onset encephalopathy with microcephaly
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.