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PTCRA

Synonyms
PT-ALPHA, PTA
External resources
Summary
The protein encoded by this gene is a single-pass type I membrane protein that is found in immmature but not mature T-cells. Along with TCRB and CD3 complex, the encoded protein forms the pre-T-cell receptor complex, which regulates early T-cell development. Four transcript variants encoding different isoforms have been found for this gene.

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
1,553
Likely benign
1,002
Benign
0

Patient phenotypes

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

Phenotype class
Patients in 3billion (%)

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