PKHD1 c.(?_5909
Pathogenic
Single submitter
Classification
Pathogenic
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
Conditions
1
polycystic kidney disease 4
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type. |
Variant & gene context
- Gene
- PKHD1
- Coding
- c.(?_5909
- MANE Select
- NM_138694
- Type
- Deletion
- Gene constraint
- LOEUF 0.783 · pLI <0.01 (gnomAD)
Disease context
polycystic kidney disease 4 — disease report on Sugi Atlas → Associated genes, phenotypes, clinical trials & treatmentsFor Autosomal recessive polycystic kidney disease (Orphanet):
- Inheritance
- Autosomal recessive
- Onset
- All ages
- Prevalence
- 1-9 / 100 000 (Germany)
Similar variants
- PKHD1 c.3229-2del Likely pathogenic ★★ same condition
- PKHD1 c.5909-2del Pathogenic/Likely pathogenic ★★ same condition
- PKHD1 c.6866-16_6866del Likely pathogenic ★★ same condition
- PKHD1 p.Ala1826fs Pathogenic/Likely pathogenic ★★ same condition
- PKHD1 p.Ala2031fs Pathogenic/Likely pathogenic ★★ same condition
- PKHD1 p.Ala2122fs Pathogenic/Likely pathogenic ★★ same condition
- PKHD1 p.Ala3fs Pathogenic ★★ same condition
- PKHD1 p.Arg1173fs Likely 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/pkhd1-c-5909 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown