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TBPL1

Synonyms
MGC:8389, MGC:9620, STUD, TLF, TLP, TRF2
External resources
Summary
This gene encodes a member of the TATA box-binding protein family. TATA box-binding proteins play a critical role in transcription by RNA polymerase II as components of the transcription factor IID (TFIID) complex. The encoded protein does not bind to the TATA box and initiates transcription from TATA-less promoters. This gene plays a critical role in spermatogenesis, and single nucleotide polymorphisms in this gene may be associated with male infertility. Alternatively spliced transcript variants have been observed for this gene, and a pseudogene of this gene is located on the long arm of chromosome 3.

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
834
Likely benign
1,208
Benign
0

Patient phenotypes

No patients carry pathogenic or likely pathogenic variants on TBPL1 gene.

Phenotype class
Patients in 3billion (%)

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