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LIMA1

Synonyms
EPLIN, LDLCQ8, SREBP3
External resources
Summary
This gene encodes a cytoskeleton-associated protein that inhibits actin filament depolymerization and cross-links filaments in bundles. It is downregulated in some cancer cell lines. Alternatively spliced transcript variants encoding different isoforms have been described for this gene, and expression of some of the variants maybe independently regulated.

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
912
Likely benign
1,331
Benign
0

Patient phenotypes

No patients carry pathogenic or likely pathogenic variants on LIMA1 gene.

Phenotype class
Patients in 3billion (%)

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