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SPZ1

Synonyms
CILD38, NYD-TSP1, PPP1R148
External resources
Summary
This gene encodes a bHLH-zip transcription factor which functions in the mitogen-activate protein kinase (MAPK) signaling pathway. Because of its role in the upregulation of cell proliferation and tumorigenesis, this gene may serve as a target for Ras-induced tumor treatments.

Variant counts

The variants found in rare patients tested by 3billion are classified and counted according to ACMG guidelines. The variants with over 5% variant frequency in population genome databases ( gnomAD, dbSNP, etc) are excluded.

Pathogenic
0
Likely pathogenic
0
VUS
261
Likely benign
928
Benign
0

Patient phenotypes

No patients carry pathogenic or likely pathogenic variants on SPZ1 gene.

Phenotype class
Patients in 3billion (%)

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