SYNPO Chromosome 5
Synaptopodin
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What This Gene Does
Synaptopodin is an actin-associated protein that may play a role in actin-based cell shape and motility. The name synaptopodin derives from the protein's associations with postsynaptic densities and dendritic spines and with renal podocytes (Mundel et al., 1997 [PubMed 9314539]).[supplied by OMIM, Mar 2008]
Associated Conditions (1)
SYNPO-related disorder
Key Variants
RS143457316
Conflicting classifications of pathogenicity
Health Risk
RS201288895
Conflicting classifications of pathogenicity
Health Risk
RS571146839
Conflicting classifications of pathogenicity
Health Risk
RS766926614
Conflicting classifications of pathogenicity
Health Risk
RS769259449
Conflicting classifications of pathogenicity
SYNPO-related disorder, SYNPO-related disorder
Health Risk
RS866518214
Conflicting classifications of pathogenicity
Health Risk
All Variants (6)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS143457316 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS201288895 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS571146839 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS766926614 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS769259449 | Health Risk | Conflicting classifications of pathogenicity | SYNPO-related disorder, SYNPO-related disorder |
| RS866518214 | Health Risk | Conflicting classifications of pathogenicity | — |