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GAB1

Synonyms
DFNB26
External resources
Summary
The protein encoded by this gene is a member of the IRS1-like multisubstrate docking protein family. It is an important mediator of branching tubulogenesis and plays a central role in cellular growth response, transformation and apoptosis. Two transcript variants encoding different isoforms have been found for this gene.

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
2,907
Likely benign
690
Benign
460

Patient phenotypes

No patients carry pathogenic or likely pathogenic variants on GAB1 gene.

Phenotype class
Patients in 3billion (%)

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