FOXF1 c.(?_15
Pathogenic
Single submitter
Classification
Pathogenic
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
Conditions
1
Idiopathic and/or familial pulmonary arterial hypertension
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type. |
Variant & gene context
- Gene
- FOXF1
- Coding
- c.(?_15
- MANE Select
- NM_001451
- Type
- Deletion
- Location
- chr16:None (GRCh38)
- Gene constraint
- LOEUF 0.685 · pLI 0.43 · ClinGen HI 3/3 (gnomAD)
- Structure
- AlphaFold pLDDT 59.41
Similar variants
- FOXF1 p.Leu300fs Pathogenic/Likely pathogenic ★★ same type
- FOXF1 c.*1176del Benign/Likely benign ★★ same type
- FOXF1 p.Ala268fs Pathogenic ★ same type
- FOXF1 p.Ala297fs Pathogenic ★ same type
- FOXF1 p.Asn317fs Likely pathogenic ★ same type
- FOXF1 p.Cys148fs Pathogenic ★ same type
- FOXF1 p.Gly281fs Likely pathogenic ★ same type
- FOXF1 p.Leu314fs 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/foxf1-c-15 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown