ACTRT1
actin related protein T1
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. [provided by RefSeq, May 2010]
Known Variants31 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs61745544 | X:127,185,153 | A/T | — | benign |
| rs1247761507 | X:127,185,170 | G/T | — | uncertain significance |
| rs138169925 | X:127,185,207 | G/A | — | uncertain significance |
| rs763528109 | X:127,185,232 | C/A | — | likely benign |
| rs61741364 | X:127,185,247 | C/A | — | benign |
| rs376216938 | X:127,185,248 | C/G | — | uncertain significance |
| rs144040239 | X:127,185,311 | T/C | — | benign |
| rs2520507206 | X:127,185,363 | G/A | — | uncertain significance |
| rs1927762280 | X:127,185,365 | C/T | — | uncertain significance |
| rs141055838 | X:127,185,455 | G/A | — | uncertain significance |
| rs2520507729 | X:127,185,465 | A/G | — | uncertain significance |
| rs199545813 | X:127,185,600 | G/C | — | uncertain significance |
| rs367847967 | X:127,185,605 | C/A | — | uncertain significance |
| rs1030175845 | X:127,185,606 | G/A | — | uncertain significance |
| rs145500748 | X:127,185,794 | C/T | — | likely benign |
| rs1319005715 | X:127,185,833 | A/T | — | uncertain significance |
| rs1436421028 | X:127,185,890 | A/G | — | uncertain significance |
| rs201880643 | X:127,185,891 | C/T | — | uncertain significance |
| rs2520510012 | X:127,185,906 | C/G | — | uncertain significance |
| rs759293030 | X:127,185,918 | T/G | — | uncertain significance |
| rs756223404 | X:127,185,959 | C/T | — | uncertain significance |
| rs756837724 | X:127,185,974 | T/C | — | uncertain significance |
| rs1172450074 | X:127,185,984 | G/C | — | uncertain significance |
| rs141145093 | X:127,186,018 | G/T | — | uncertain significance |
| rs1186317615 | X:127,186,052 | T/C | — | uncertain significance |
| rs375823292 | X:127,186,068 | C/T | — | likely benign |
| rs199614384 | X:127,186,133 | G/A | — | uncertain significance |
| rs143652688 | X:127,186,149 | T/C | — | likely benign |
| rs776551031 | X:127,186,159 | A/G | — | likely benign |
| rs138430204 | X:127,186,161 | C/T | — | uncertain significance |
| rs751467933 | X:127,186,165 | T/G | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.