AGXT c.1_595del
Pathogenic
Single submitter
Classification
Pathogenic
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
Conditions
1
primary hyperoxaluria type 1
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type. |
Variant & gene context
- Gene
- AGXT
- Coding
- c.1_595del
- MANE Select
- NM_000030
- Type
- Deletion
- Gene constraint
- LOEUF 1.251 · pLI <0.01 · ClinGen HI gene assoc. with recessive phenotype (gnomAD)
- Structure
- AlphaFold pLDDT 98.30 · 17 PDB
Disease context
primary hyperoxaluria type 1 — disease report on Sugi Atlas → Associated genes, phenotypes, clinical trials & treatmentsFor Primary hyperoxaluria (Orphanet):
- Inheritance
- Autosomal recessive
- Onset
- All ages
- Prevalence
- 1-9 / 1 000 000 (Germany)
Similar variants
- AGXT c.359-1_382del Pathogenic ★★ same condition
- AGXT c.424-66_425del Likely pathogenic ★★ same condition
- AGXT c.679_680+2del Pathogenic ★★ same condition
- AGXT p.Ala325fs Pathogenic/Likely pathogenic ★★ same condition
- AGXT p.Gln110fs Pathogenic ★★ same condition
- AGXT p.Gln145fs Pathogenic/Likely pathogenic ★★ same condition
- AGXT p.Leu151fs Pathogenic ★★ same condition
- AGXT p.Leu193fs 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/agxt-c-1-595del (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown