CENPV
Chr 17centromere protein V
Also known as: 3110013H01Rik, CENP-V, PRR6, p30
The protein is required for centromere formation and organization, chromosome alignment, and cytokinesis, and is essential for proper distribution of pericentromeric heterochromatin during cell division. Mutations in this gene cause autosomal recessive primary microcephaly with seizures and developmental delay. The gene shows moderate tolerance to loss-of-function variants, which is consistent with the recessive inheritance pattern observed in affected individuals.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Typical tolerance to LoF variation
Mild missense constraint
ClinVar Variant Classifications
87 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 | 25 | 0 | 25 |
Likely Pathogenic | 0 | 0 | 0 | 0 | 0 |
VUS | 0 | 36 | 18 | 0 | 54 |
Likely Benign | 0 | 1 | 1 | 0 | 2 |
Benign | 0 | 1 | 0 | 0 | 1 |
| Total | 0 | 38 | 44 | 0 | 82 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
CENPV · 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