Home > Gene Browser > PCED1B

PCED1B

Synonyms
FAM113B
External resources
Summary
This gene encodes a protein that belongs to the GDSL/SGNH-like acyl-esterase family. Members of this family are hydrolases thought to function in modification of biopolymers on the cell surface. Alternate splicing results in multiple transcript variants encoding different isoforms.

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
2,432
Likely benign
284
Benign
0

Patient phenotypes

No patients carry pathogenic or likely pathogenic variants on PCED1B gene.

Phenotype class
Patients in 3billion (%)

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