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ABTB1

Synonyms
BPOZ, BTB3, BTBD21, EF1ABP, PP2259
External resources
Summary
This gene encodes a protein with an ankyrin repeat region and two BTB/POZ domains, which are thought to be involved in protein-protein interactions. Expression of this gene is activated by the phosphatase and tensin homolog, a tumor suppressor. Alternate splicing results in three transcript variants.

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
3,963
Likely benign
437
Benign
0

Patient phenotypes

No patients carry pathogenic or likely pathogenic variants on ABTB1 gene.

Phenotype class
Patients in 3billion (%)

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