ACTN3
actinin alpha 3
Summary
This gene encodes a member of the alpha-actin binding protein gene family. The encoded protein is primarily expressed in skeletal muscle and functions as a structural component of sarcomeric Z line. This protein is involved in crosslinking actin containing thin filaments. An allelic polymorphism in this gene results in both coding and non-coding variants; the reference genome represents the coding allele. The non-functional allele of this gene is associated with elite athlete status. [provided by RefSeq, Apr 2024]
Known Variants116 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs527798603 | 11:66,314,015 | T/C | — | likely benign |
| rs150880895 | 11:66,314,224 | C/G | — | benign |
| rs368835939 | 11:66,314,233 | C/T | — | benign |
| rs1444036438 | 11:66,314,448 | G/A | — | uncertain significance |
| rs767048407 | 11:66,314,449 | A/C | — | uncertain significance |
| rs747126112 | 11:66,314,488 | T/G | — | uncertain significance |
| rs201937354 | 11:66,314,514 | G/C | — | likely benign |
| rs754278158 | 11:66,314,551 | G/A | — | uncertain significance |
| rs151207527 | 11:66,317,068 | G/A | upstream gene variant | — |
| rs376028578 | 11:66,318,767 | A/G | — | uncertain significance |
| rs202165715 | 11:66,318,783 | G/A | — | uncertain significance |
| rs369975190 | 11:66,318,797 | C/T | — | uncertain significance |
| rs187286120 | 11:66,318,803 | C/T | — | likely benign |
| rs192076014 | 11:66,318,811 | G/A | — | likely benign |
| rs773998294 | 11:66,319,005 | G/A | — | uncertain significance |
| rs1271468945 | 11:66,319,024 | A/T | — | uncertain significance |
| rs757226651 | 11:66,319,080 | C/A | — | uncertain significance |
| rs533712814 | 11:66,319,110 | G/A | — | uncertain significance |
| rs569022261 | 11:66,319,116 | A/C | — | uncertain significance |
| rs484358 | 11:66,319,262 | G/A | intron variant | — |
| rs778666308 | 11:66,321,521 | G/A | — | uncertain significance |
| rs780639406 | 11:66,321,527 | G/A | — | uncertain significance |
| rs771328993 | 11:66,321,543 | C/T | — | uncertain significance |
| rs2495971671 | 11:66,321,555 | T/C | — | uncertain significance |
| rs377124055 | 11:66,321,567 | T/C | — | uncertain significance |
| rs374445358 | 11:66,321,578 | G/A | — | uncertain significance |
| rs972128921 | 11:66,321,597 | T/C | — | uncertain significance |
| rs34515982 | 11:66,322,639 | G/A | — | likely benign |
| rs765678198 | 11:66,322,644 | C/T | — | uncertain significance |
| rs200452235 | 11:66,322,675 | G/A | — | benign |
| rs764609882 | 11:66,322,823 | A/T | — | uncertain significance |
| rs371024898 | 11:66,323,638 | G/A | — | likely benign |
| rs2495978298 | 11:66,323,658 | C/A | — | uncertain significance |
| rs368334575 | 11:66,323,661 | A/G | — | uncertain significance |
| rs139548317 | 11:66,323,670 | G/A | — | uncertain significance |
| rs748725379 | 11:66,324,652 | G/A | — | uncertain significance |
| rs1388194424 | 11:66,324,660 | G/T | — | uncertain significance |
| rs773667032 | 11:66,324,669 | G/A | — | uncertain significance |
| rs776965942 | 11:66,325,176 | G/A | — | uncertain significance |
| rs746136942 | 11:66,325,177 | A/G | — | uncertain significance |
| rs200574979 | 11:66,325,212 | C/T | — | benign |
| rs752062387 | 11:66,325,243 | A/G | — | uncertain significance |
| rs201487054 | 11:66,325,264 | G/A | — | benign |
| rs2495983602 | 11:66,325,308 | T/G | — | uncertain significance |
| rs756399314 | 11:66,325,324 | A/G | — | uncertain significance |
| rs144546392 | 11:66,325,382 | C/T | — | likely benign |
| rs368474114 | 11:66,325,383 | G/A | — | uncertain significance |
| rs1278778552 | 11:66,325,490 | C/T | — | likely benign |
| rs771359538 | 11:66,325,520 | G/A | — | uncertain significance |
| rs577663573 | 11:66,325,544 | A/G | — | uncertain significance |
| rs747900211 | 11:66,325,569 | C/A | — | likely benign |
| rs777352539 | 11:66,325,571 | G/A | — | uncertain significance |
| rs764415736 | 11:66,325,606 | T/C | — | uncertain significance |
| rs200842599 | 11:66,325,609 | C/T | — | uncertain significance |
| rs201812719 | 11:66,325,618 | G/T | — | benign |
| rs140783486 | 11:66,326,020 | G/A | downstream gene variant | — |
| rs201302484 | 11:66,326,716 | A/T | — | uncertain significance |
| rs2495987831 | 11:66,326,735 | C/A | — | uncertain significance |
| rs1293466743 | 11:66,326,809 | C/T | — | uncertain significance |
| rs2495988437 | 11:66,326,836 | C/G | — | uncertain significance |
| rs376311597 | 11:66,326,837 | C/T | — | likely benign |
| rs114371258 | 11:66,326,840 | G/A | — | benign |
| rs766136532 | 11:66,326,842 | T/G | — | uncertain significance |
| rs749330175 | 11:66,327,456 | A/G | — | uncertain significance |
| rs375292387 | 11:66,327,487 | C/A | — | likely benign |
| rs370953791 | 11:66,327,503 | G/T | — | uncertain significance |
| rs1169687897 | 11:66,327,526 | G/C | — | uncertain significance |
| rs1437873589 | 11:66,327,647 | G/A | — | uncertain significance |
| rs1671064 | 11:66,327,673 | A/G | — | benign |
| rs755970754 | 11:66,327,674 | G/C | — | uncertain significance |
| rs368086463 | 11:66,327,697 | G/A | — | uncertain significance |
| rs372101780 | 11:66,327,703 | C/T | — | uncertain significance |
| rs184916656 | 11:66,327,727 | G/A | — | uncertain significance |
| rs367692010 | 11:66,327,732 | G/A | — | uncertain significance |
| rs771486650 | 11:66,327,768 | G/T | — | uncertain significance |
| rs77271331 | 11:66,328,036 | G/A | — | benign |
| rs2229455 | 11:66,328,055 | A/G | — | benign |
| rs192180462 | 11:66,328,058 | G/A | — | likely benign |
| rs375580657 | 11:66,328,060 | A/G | — | uncertain significance |
| rs782134921 | 11:66,328,086 | G/A | — | uncertain significance |
| rs1815739 | 11:66,328,095 | C/T | stop gained | benign |
| rs377076795 | 11:66,328,150 | C/T | — | uncertain significance |
| rs766026099 | 11:66,328,702 | G/A | — | uncertain significance |
| rs618838 | 11:66,328,719 | T/C | — | benign |
| rs755463676 | 11:66,328,740 | G/A | — | uncertain significance |
| rs2229456 | 11:66,328,741 | A/C | — | benign |
| rs200416232 | 11:66,328,773 | C/T | — | uncertain significance |
| rs565643850 | 11:66,328,774 | G/A | — | uncertain significance |
| rs760434035 | 11:66,328,786 | C/T | — | uncertain significance |
| rs201682133 | 11:66,328,803 | A/G | — | likely benign |
| rs539782432 | 11:66,328,820 | G/C | — | uncertain significance |
| rs375257311 | 11:66,328,990 | G/A | — | uncertain significance |
| rs760973896 | 11:66,329,034 | C/T | — | uncertain significance |
| rs768200266 | 11:66,329,088 | C/G | — | uncertain significance |
| rs374908695 | 11:66,329,488 | G/A | — | likely benign |
| rs372825946 | 11:66,329,499 | C/T | — | uncertain significance |
| rs77239910 | 11:66,329,639 | A/G | — | benign |
| rs540874 | 11:66,329,732 | A/G | — | benign |
| rs1043778773 | 11:66,329,743 | A/G | — | uncertain significance |
| rs201288932 | 11:66,330,275 | G/A | — | likely benign |
Showing 100 of 116 variants. Use the SNP search for the full list.
Gene information from NCBI Gene. Variant classifications from ClinVar.