USH2A c.(?_4628
Pathogenic
Single submitter
Classification
Pathogenic
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
Conditions
1
Usher syndrome
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type. |
Variant & gene context
- Gene
- USH2A
- Coding
- c.(?_4628
- MANE Select
- NM_206933
- Type
- Deletion
- Location
- chr1:None (GRCh37)
- Gene constraint
- LOEUF 0.855 · pLI <0.01 · ClinGen HI gene assoc. with recessive phenotype (gnomAD)
Disease context
Usher syndrome — disease report on Sugi Atlas → Associated genes, phenotypes, clinical trials & treatmentsFor Usher syndrome (Orphanet):
- Inheritance
- Autosomal recessive
- Onset
- Childhood, Infancy, Neonatal
- Prevalence
- 1-9 / 100 000 (Worldwide)
Similar variants
- USH2A c.12295-?_14133+?del Likely pathogenic ★★★ same condition
- USH2A c.4251+1del Pathogenic/Likely pathogenic ★★ same condition
- USH2A p.Arg2509fs Pathogenic ★★ same condition
- USH2A p.Asp233fs Pathogenic/Likely pathogenic ★★ same condition
- USH2A p.Cys3180fs Pathogenic ★★ same condition
- USH2A p.Gln1063fs Pathogenic ★★ same condition
- USH2A p.Gln299fs Pathogenic/Likely pathogenic ★★ same condition
- USH2A p.Gln4371fs Pathogenic/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/ush2a-c-4628 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown