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SPAG16

Synonyms
PF20, WDR29
External resources
Summary
Cilia and flagella are comprised of a microtubular backbone, the axoneme, which is organized by the basal body and surrounded by plasma membrane. SPAG16 encodes 2 major proteins that associate with the axoneme of sperm tail and the nucleus of postmeiotic germ cells, respectively (Zhang et al., 2007 [PubMed 17699735]).

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
21,320
Likely benign
6,047
Benign
0

Patient phenotypes

No patients carry pathogenic or likely pathogenic variants on SPAG16 gene.

Phenotype class
Patients in 3billion (%)

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