MECP2 c.(?_1017
Pathogenic
No assertion criteria
Classification
Pathogenic
ClinVar
Review
No assertion criteria ☆☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
Conditions
1
Rett syndrome
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type. |
Variant & gene context
- Gene
- MECP2
- Coding
- c.(?_1017
- MANE Select
- NM_001110792 · reported on NM_004992
- Type
- Deletion
- Location
- chrX:None (GRCh38)
- Structure
- AlphaFold pLDDT 57.25 · 11 PDB
Disease context
Rett syndrome — disease report on Sugi Atlas → Associated genes, phenotypes, clinical trials & treatmentsFor Rett syndrome (Orphanet):
- Inheritance
- X-linked dominant
- Onset
- Infancy
- Prevalence
- 1-9 / 100 000 (Europe)
Similar variants
- MECP2 p.Gly281fs Pathogenic ★★★ same condition
- MECP2 p.Ile305_Ser362del Likely pathogenic ★★★ same condition
- MECP2 p.Val392fs Pathogenic ★★★ same condition
- MECP2 p.His380fs Uncertain significance ★★★ same condition
- MECP2 p.Leu394_Pro402del Uncertain significance ★★★ same condition
- MECP2 p.Pro400_Pro479del Uncertain significance ★★★ same condition
- MECP2 p.Glu406_Pro417del Likely benign ★★★ same condition
- MECP2 p.Leu398_Pro399del Likely benign ★★★ same condition
Built on 18 open, versioned datasets — ClinVar, gnomAD, AlphaMissense, REVEL, ClinGen & more — plus Sugi Variant's own cross-source analysis. Source data 2026-01–2026-10, ClinVar 2026-10. Full sources & versions →
Cite Sugi Variant
Gür T. Sugi Variant: A Deterministic Per-Variant Germline Reference from a Knowledge Graph for Humans and AI Agents. 2026. doi:10.5281/zenodo.21509445. This variant: https://sugi.bio/variant/mecp2-c-1017 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown