DCX p.Ile68fs
c.201del · VCV4278559
Pathogenic
Single submitter
Classification
Pathogenic
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
Consequence
frameshift
predicted LoF
gnomAD v4.1
Rare
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| Consequence | frameshift | predicted loss-of-function in a haploinsufficient gene (ClinGen) |
|---|---|---|
| NMD | predicted | premature termination codon in exon 2 of 7 |
| Splicing | ||
| SpliceAI | — | not assessed · substitutions only |
| Constraint at this position | ||
| Conservation | phyloP 7.9 | GERP 2.1, phastCons 1 |
Predicted loss-of-function is descriptive, not an applied PVS1 code.
Variant & gene context
- Gene
- DCX
- Protein
- p.Ile68fs
- Coding
- c.201del
- MANE Select
- NM_001195553
- Type
- Deletion
- Location
- chrX:111410198 (GRCh38)
- Structure
- AlphaFold pLDDT 67.19 · 14 PDB
- Residue 68
- the doublecortin 1 domain; a β-strand
Similar variants
- DCX p.Lys227fs Pathogenic/Likely pathogenic ★★ same type
- DCX c.364+1del Pathogenic ★ same type
- DCX c.367del Pathogenic ★ same type
- DCX c.705_705+12del Likely pathogenic ★ same type
- DCX c.705+1del Pathogenic ★ same type
- DCX c.-22-345_326del Pathogenic ★ same type
- DCX p.Arg11_Asp12insTer Pathogenic ★ same type
- DCX p.Arg63fs Likely pathogenic ★ same type
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-p-ile68fs (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown