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ACTRT1

Synonyms
AIP1, ARIP1, ARPT1, HSD27
External resources
Summary
This gene encodes a protein related to the cytoskeletal protein beta-actin. This protein is a major component of the calyx in the perinuclear theca of mammalian sperm heads, and it therefore likely functions in spermatid formation. This gene is intronless and is similar to a related gene located on chromosome 1. A related pseudogene has also been identified approximately 75 kb downstream of this gene on chromosome X.

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
360
Likely benign
560
Benign
0

Patient phenotypes

No patients carry pathogenic or likely pathogenic variants on ACTRT1 gene.

Phenotype class
Patients in 3billion (%)

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