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NEBL c.(?_1228

VCV180074

Uncertain significance Single submitter
Classification
Uncertain significance
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare

Computational evidence

Protein change
Missense predictors do not apply to this variant type.

Variant & gene context

Gene
NEBL
Coding
c.(?_1228
MANE Select
NM_006393
Type
Deletion
Location
chr10:None (GRCh38)
Gene constraint
LOEUF 1.036 · pLI <0.01 · ClinGen HI 0/3 (gnomAD)
Structure
AlphaFold pLDDT 62.00 · 1 PDB
Full NEBL gene report on Sugi Atlas → Gene function, pathways, protein structure, interactions & more

Similar variants

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/nebl-c-1228 (accessed [today's date]).

Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown