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TDRD6

Synonyms
CT41.2, NY-CO-45, SPATA36, TDR2, bA446F17.4
External resources
Summary
This gene encodes a tudor domain-containing protein and component of the chromatoid body, a type of ribonucleoprotein granule present in male germ cells. Studies in rodents have demonstrated a role for the encoded protein in spermiogenesis and the nonsense mediated decay (NMD) pathway. This protein is a major autoantigen in human patients with autoimmune polyendocrine syndrome type 1 (APS1).

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
19,026
Likely benign
2,450
Benign
0

Patient phenotypes

No patients carry pathogenic or likely pathogenic variants on TDRD6 gene.

Phenotype class
Patients in 3billion (%)

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