UPK3A Chromosome 22
Uroplakin 3A
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What This Gene Does
This gene encodes a member of the uroplakin family, a group of transmembrane proteins that form complexes on the apical surface of the bladder epithelium. Mutations in this gene may be associated with renal adysplasia. Alternatively spliced transcript variants have been described.[provided by RefSeq, Nov 2009]
Associated Conditions (2)
Renal hypodysplasia/aplasia 1
UPK3A-related disorder
Key Variants
RS139626522
Conflicting classifications of pathogenicity
Renal hypodysplasia/aplasia 1, Renal hypodysplasia/aplasia 1
Health Risk
RS374008042
Conflicting classifications of pathogenicity
Renal hypodysplasia/aplasia 1, UPK3A-related disorder, Renal hypodysplasia/aplasia 1
Health Risk
RS786205558
Likely pathogenic
Health Risk
All Variants (3)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS139626522 | Health Risk | Conflicting classifications of pathogenicity | Renal hypodysplasia/aplasia 1, Renal hypodysplasia/aplasia 1 |
| RS374008042 | Health Risk | Conflicting classifications of pathogenicity | Renal hypodysplasia/aplasia 1, UPK3A-related disorder, Renal hypodysplasia/aplasia 1 |
| RS786205558 | Health Risk | Likely pathogenic | — |