TAPT1
Chr 4ARtransmembrane anterior posterior transformation 1
Also known as: CMVFR, OCLSBG
The protein localizes to the centrosome and ciliary basal body and is essential for primary cilium formation and normal cartilage and bone development. Mutations cause osteochondrodysplasia, complex lethal, Symoens-Barnes-Gistelinck type, a severe congenital skeletal disorder with undermineralization of the intrauterine skeleton. This condition follows autosomal recessive inheritance.
Primary Disease Associations & Inheritance
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
More LoF-intolerant than ~75% of genes
Mild missense constraint
Predictions shown for reference only — model trained on dominant genes, not applicable to AR conditions.
The Badonyi & Marsh prediction model was trained exclusively on dominant disease genes. Predictions are not reliable for genes with autosomal recessive inheritance and are shown at reduced opacity for reference only.
Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.
ClinVar Variant Classifications
403 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 | 3 | 1 | 48 | 0 | 52 |
Likely Pathogenic | 3 | 0 | 5 | 0 | 8 |
VUS | 0 | 93 | 11 | 1 | 105 |
Likely Benign | 0 | 5 | 81 | 65 | 151 |
Benign | 0 | 1 | 67 | 4 | 72 |
Conflicting | — | 4 | |||
| Total | 6 | 100 | 212 | 70 | 392 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
TAPT1 · 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