CORO7
Chr 16coronin 7
Also known as: 0610011B16Rik, CRN7, POD1
The protein regulates F-actin to facilitate anterograde transport from the Golgi apparatus to endosomes and helps maintain Golgi morphology. Mutations cause autosomal recessive developmental delay, intellectual disability, seizures, and microcephaly with onset in infancy or early childhood. The gene shows extremely low constraint against loss-of-function variants, which is consistent with the recessive inheritance pattern observed clinically.
Some data sources returned errors (1)
omim: Error: OMIM fetch failed: 429
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly tolerant — LoF variants common in population
Tolerant to missense variation
ClinVar Variant Classifications
228 submitted variants in ClinVar
Classification Summary
Curated Variants Distribution
Classified variants from ClinVar · 5 ACMG categories
| Classification | LoF | Missense + Inframe | Non-coding | Synonymous | Total |
|---|---|---|---|---|---|
Pathogenic | 0 | 0 | 33 | 0 | 33 |
Likely Pathogenic | 0 | 0 | 0 | 0 | 0 |
VUS | 0 | 163 | 11 | 0 | 174 |
Likely Benign | 0 | 13 | 0 | 1 | 14 |
Benign | 0 | 2 | 0 | 2 | 4 |
| Total | 0 | 178 | 44 | 3 | 225 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
CORO7 · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
3D Protein StructureAlphaFold
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
No active trials found for this gene.
Search ClinicalTrials.gov →External Resources
Links to major genomics databases and tools