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ITGBL1

Synonyms
OSCP, TIED
External resources
Summary
This gene encodes a beta integrin-related protein that is a member of the EGF-like protein family. The encoded protein contains integrin-like cysteine-rich repeats. Alternative splicing results in multiple transcript variants.

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
3,064
Likely benign
752
Benign
0

Patient phenotypes

No patients carry pathogenic or likely pathogenic variants on ITGBL1 gene.

Phenotype class
Patients in 3billion (%)

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