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LAGE3

Synonyms
CVG5, DXS9879E, DXS9951E, ESO3, GAMOS2, ITBA2, Pcc1
External resources
Summary
This gene belongs to the ESO/LAGE gene family, members of which are clustered together on chromosome Xq28, and have similar exon-intron structures. Unlike the other family members which are normally expressed only in testis and activated in a wide range of human tumors, this gene is ubiquitously expressed in somatic tissues. The latter, combined with the finding that it is highly conserved in mouse and rat, suggests that the encoded protein is functionally important. An intronless pseudogene with high sequence similarity to this gene is located on chromosome 9.

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
457
Likely benign
1,025
Benign
0

Patient phenotypes

No patients carry pathogenic or likely pathogenic variants on LAGE3 gene.

Phenotype class
Patients in 3billion (%)

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