DCX c.367del
Pathogenic
Single submitter
Classification
Pathogenic
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Not reported
no gnomAD frequency available for this variant
Conditions
1
Ectopic tissue
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| Splicing | ||
| SpliceAI | — | not assessed · substitutions only |
|---|---|---|
| Constraint at this position | ||
| Conservation | phyloP 6.2 | GERP 2.1, phastCons 1 |
| Non-coding constraint | — | not assessed · autosomes only, so chrX has no window · absence ≠ unconstrained |
Population frequency
dbSNP / gnomAD
No gnomAD frequency available for this variant. This is missing data, not an absence: the variant may or may not be present in gnomAD. Rarity (ACMG PM2) and BA1/BS1 cannot be assessed for it.
Variant & gene context
- Gene
- DCX
- Coding
- c.367del
- MANE Select
- NM_001195553 · reported on NM_178151
- dbSNP
- rs587783545
- Type
- Deletion
- Location
- chrX:111401328 (GRCh38)
- Structure
- AlphaFold pLDDT 67.19 · 14 PDB
Similar variants
- DCX p.Asn131del Pathogenic ★ same condition
- DCX p.Ile218fs Pathogenic ★ same condition
- DCX p.Lys193fs Pathogenic ★ same condition
- DCX p.Lys51fs Pathogenic ★ same condition
- DCX p.Ser165fs Pathogenic ★ same condition
- DCX p.Thr42fs Pathogenic ★ same condition
- DCX p.Val224fs Pathogenic ★ same condition
- DCX p.Ala204Asp Pathogenic ★★ 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/dcx-c-367del (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown