Published September 13, 2026
| Version v1
Dataset
Open
COL4A1/COL4A2 Allelic Heterogeneity: Code and Summary Data
Description
COL4A1 and COL4A2 encode the alpha-1 and alpha-2 chains of type IV collagen, a core
component of basement membranes. Pathogenic variants in these genes cause a spectrum of disease
(cerebrovascular, renal, ophthalmological, and other manifestations) with highly variable
expressivity. This project asks whether different classes of pathogenic variant (loss-of-function,
glycine missense within the triple helical domain, other missense) are associated with different
patterns and severity of disease. It combines genetic variant data from three sources — the UK
Biobank (UKBB), the All of Us Research Program (AoU), and the published literature — with clinical
phenotype data to estimate penetrance and test for allelic heterogeneity.
Files
COL4A1_2_AHA.zip
Additional details
Funding
- American Heart Association
- Investigating the Phenotypic Variability of Collagen Type IV Vascular Disease Using Population-scale Data 23CDA1045330