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PEAR1

Synonyms
JEDI, MEGF12
External resources
Summary
PEAR1 is a platelet receptor that signals upon the formation of platelet-platelet contacts independent of platelet activation and secondary to platelet aggregation (Nanda et al., 2005 [PubMed 15851471]).

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
7,005
Likely benign
4,044
Benign
0

Patient phenotypes

No patients carry pathogenic or likely pathogenic variants on PEAR1 gene.

Phenotype class
Patients in 3billion (%)

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