# 4p16.3-15.31 deletion — WFS1 Molecular Atlas Card

**Variant type:** Copy-number variant (deletion)
**Region:** Chromosome 4p16.3-15.31 (gene-level structural event)

---

## CNV-loss — Copy-number deletion — 4p16.3-15.31

This is a large copy-number deletion spanning 4p16.3-15.31 — a gene-level event causing loss of one copy of this region (wolframin haploinsufficiency or, with a second hit, loss of function). CNVs act by dosage rather than by altering a single residue, so AlphaFold residue mapping, ΔΔG, NMD and AlphaMissense don't apply. Therapeutically these are gene-replacement candidates (restore a working copy); per-residue chaperone/readthrough strategies are not relevant. Confirm breakpoints and gene content against the ClinVar record below.

---

## Clinical evidence

- **Classification:** Pathogenic
- **Review status:** criteria provided, single submitter
- **Associated conditions:** not specified
- **ClinVar accession:** VCV004851030
- **Genomic variant:** GRCh37/hg19 4p16.3-15.31(chr4:68345-21213392)x1
- **Last evaluated:** 1/01/01 00:00

---

_Card generated by `wolfram-atlas-batch` (CNV pipeline) on 2026-06-08T03:03:52.326864Z._
_CNVs are gene-level events; WFS1 protein reference UniProt O76024 is not residue-mapped here._