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PDLIM1

Synonyms
CLIM1, CLP-36, CLP36, HEL-S-112, hCLIM1
External resources
Summary
This gene encodes a member of the enigma protein family. The protein contains two protein interacting domains, a PDZ domain at the amino terminal end and one to three LIM domains at the carboxyl terminal. It is a cytoplasmic protein associated with the cytoskeleton. The protein may function as an adapter to bring other LIM-interacting proteins to the cytoskeleton. Pseudogenes associated with this gene are located on chromosomes 3, 14 and 17.

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
1,120
Likely benign
397
Benign
0

Patient phenotypes

No patients carry pathogenic or likely pathogenic variants on PDLIM1 gene.

Phenotype class
Patients in 3billion (%)

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