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PHLDA1

Synonyms
DT1P1B11, PHRIP, TDAG51
External resources
Summary
This gene encodes an evolutionarily conserved proline-histidine rich nuclear protein. The encoded protein may play an important role in the anti-apoptotic effects of insulin-like growth factor-1.

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
534
Likely benign
942
Benign
0

Patient phenotypes

No patients carry pathogenic or likely pathogenic variants on PHLDA1 gene.

Phenotype class
Patients in 3billion (%)

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