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IZUMO1

Synonyms
IZUMO, OBF
External resources
Summary
The sperm-specific protein Izumo, named for a Japanese shrine dedicated to marriage, is essential for sperm-egg plasma membrane binding and fusion (Inoue et al., 2005 [PubMed 15759005]).

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
12,632
Likely benign
314
Benign
0

Patient phenotypes

No patients carry pathogenic or likely pathogenic variants on IZUMO1 gene.

Phenotype class
Patients in 3billion (%)

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