VWA3B Chromosome 2
Von Willebrand factor A domain containing 3B
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What This Gene Does
This gene encodes an intracellular protein that contains a von Willebrand factor type A domain. Intracellular proteins with VWA domains are thought to function in transcription, DNA repair, ribosomal and membrane transport and the proteasome. Mutations in this gene are associated with Spinocerebellar ataxia, autosomal recessive 22. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, May 2017]
Associated Conditions (3)
VWA3B-related disorder
Spinocerebellar ataxia
autosomal recessive 22
Key Variants
RS146673560
Conflicting classifications of pathogenicity
VWA3B-related disorder, VWA3B-related disorder
Health Risk
RS200133181
Conflicting classifications of pathogenicity
Health Risk
RS375244468
Conflicting classifications of pathogenicity
Health Risk
RS75780325
Conflicting classifications of pathogenicity
Health Risk
RS876657414
Pathogenic
Spinocerebellar ataxia, autosomal recessive 22, Spinocerebellar ataxia
Health Risk
RS546662496
Pathogenic/Likely pathogenic
Spinocerebellar ataxia, autosomal recessive 22, Spinocerebellar ataxia
Health Risk
All Variants (6)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS146673560 | Health Risk | Conflicting classifications of pathogenicity | VWA3B-related disorder, VWA3B-related disorder |
| RS200133181 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS375244468 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS75780325 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS876657414 | Health Risk | Pathogenic | Spinocerebellar ataxia, autosomal recessive 22, Spinocerebellar ataxia |
| RS546662496 | Health Risk | Pathogenic/Likely pathogenic | Spinocerebellar ataxia, autosomal recessive 22, Spinocerebellar ataxia |