TXNL4A c.Exon
Pathogenic
No assertion criteria
Classification
Pathogenic
ClinVar
Review
No assertion criteria ☆☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
Conditions
1
choanal atresia-hearing loss-cardiac defects-craniofacial dysmorphism syndrome
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type. |
Variant & gene context
- Gene
- TXNL4A
- Coding
- c.Exon
- MANE Select
- NM_006701
- Type
- Deletion
- Gene constraint
- LOEUF 1.848 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 88.21 · 32 PDB
Similar variants
- TXNL4A p.Phe30fs Likely pathogenic ★★ same condition
- TXNL4A p.Asn87Alafs Pathogenic same condition
- TXNL4A p.His32fs Pathogenic same condition
- TXNL4A p.Asn87Ser Uncertain significance ★★ ⚠ same condition
- TXNL4A p.Val25Glu Uncertain significance ★★ ⚠ same condition
- TXNL4A p.Arg141= Benign/Likely benign ★★ same condition
- TXNL4A p.Gly97fs Likely pathogenic ★ same condition
- TXNL4A c.-61+1G>A Uncertain significance ★ 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/txnl4a-c-exon (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown