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PTBP3

Synonyms
ROD1
External resources
Summary
The protein encoded by this gene binds RNA and is a regulator of cell differentiation. The encoded protein preferentially binds to poly(G) and poly(U) sequences in vitro. Several 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
3,546
Likely benign
2,648
Benign
0

Patient phenotypes

No patients carry pathogenic or likely pathogenic variants on PTBP3 gene.

Phenotype class
Patients in 3billion (%)

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