VWA1
Chr 1ARvon Willebrand factor A domain containing 1
Also known as: HMNMYO, HMNR7, WARP
Primary Disease Associations & Inheritance
Neuronopathy, distal hereditary motor, autosomal recessive 7MIM #619216
AR
UniProtNeuronopathy, hereditary motor, autosomal recessive 7
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Tolerant — LoF & missense variants common in population
LoF Constraint?
1.07LOEUF
pLI 0.005
Z-score 1.43
OE 0.51 (0.26–1.07)
Highly tolerant — LoF variants common in population
Missense Constraint?
-0.15Z-score
OE missense 1.03 (0.92–1.15)
219 obs / 212.9 exp
Tolerant to missense variation
Observed / Expected Ratios?
LoF OE?0.51 (0.26–1.07)
0≤0.351.4
Missense OE?1.03 (0.92–1.15)
0≤0.61.4
Synonymous OE?0.96
0≤1.21.6
LoF obs/exp: 5 / 9.9Missense obs/exp: 219 / 212.9Syn Z: 0.32
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
VWA1 · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
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