ANGPTL3
angiopoietin like 3
Summary
This gene encodes a member of a family of secreted proteins that function in angiogenesis. The encoded protein, which is expressed predominantly in the liver, is further processed into an N-terminal coiled-coil domain-containing chain and a C-terminal fibrinogen chain. The N-terminal chain is important for lipid metabolism, while the C-terminal chain may be involved in angiogenesis. Mutations in this gene cause familial hypobetalipoproteinemia type 2. [provided by RefSeq, Aug 2015]
Known Variants69 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs776558413 | 1:63,063,277 | G/C | — | uncertain significance |
| rs2525840398 | 1:63,063,279 | T/G | — | likely benign |
| rs752195217 | 1:63,063,300 | A/C | — | uncertain significance |
| rs763902658 | 1:63,063,306 | T/C | — | likely benign |
| rs1364780951 | 1:63,063,308 | C/T | — | uncertain significance |
| rs746135169 | 1:63,063,310 | T/C | — | uncertain significance |
| rs369780744 | 1:63,063,444 | T/C | — | likely benign |
| rs145578974 | 1:63,063,454 | C/A | — | uncertain significance |
| rs141150415 | 1:63,063,480 | T/C | — | likely benign |
| rs139334976 | 1:63,063,509 | A/G | — | uncertain significance |
| rs1454454093 | 1:63,063,528 | G/T | — | uncertain significance |
| rs2525848580 | 1:63,063,542 | C/T | — | uncertain significance |
| rs771793802 | 1:63,063,586 | T/G | — | uncertain significance |
| rs772744707 | 1:63,063,589 | C/T | — | uncertain significance |
| rs1649528013 | 1:63,063,615 | C/T | — | likely benign |
| rs200785483 | 1:63,063,622 | G/T | stop gained | pathogenic |
| rs751759402 | 1:63,063,623 | A/G | — | uncertain significance |
| rs372257803 | 1:63,063,738 | T/C | splice region variant | — |
| rs770171690 | 1:63,064,351 | T/A | — | likely benign |
| rs577182439 | 1:63,064,386 | A/G | — | uncertain significance |
| rs111414963 | 1:63,064,436 | T/C | — | likely benign |
| rs1178161244 | 1:63,064,448 | C/T | — | uncertain significance |
| rs144125697 | 1:63,064,450 | T/C | — | likely benign |
| rs72649576 | 1:63,066,644 | C/T | — | likely benign |
| rs2525923039 | 1:63,066,753 | C/G | — | uncertain significance |
| rs776912361 | 1:63,066,799 | C/G | — | uncertain significance |
| rs1232979034 | 1:63,066,813 | C/T | — | uncertain significance |
| rs762614201 | 1:63,066,825 | C/T | — | uncertain significance |
| rs200655658 | 1:63,066,837 | T/C | — | likely benign |
| rs114515649 | 1:63,066,963 | C/T | — | likely benign |
| rs76989076 | 1:63,067,207 | T/C | — | likely benign |
| rs141967457 | 1:63,067,475 | G/T | — | uncertain significance |
| rs200949988 | 1:63,067,484 | A/G | — | conflicting classifications of pathogenicity |
| rs985004442 | 1:63,067,547 | A/G | — | likely benign |
| rs191293319 | 1:63,067,554 | G/C | — | likely pathogenic |
| rs180801384 | 1:63,067,566 | T/A | — | benign |
| rs115032502 | 1:63,067,610 | T/G | — | likely benign |
| rs960306207 | 1:63,067,968 | C/T | — | uncertain significance |
| rs988174929 | 1:63,067,986 | T/A | — | uncertain significance |
| rs398122989 | 1:63,068,003 | T/C | missense variant | pathogenic |
| rs769889959 | 1:63,068,032 | T/C | — | likely benign |
| rs2149537386 | 1:63,068,045 | C/T | — | uncertain significance |
| rs1306328327 | 1:63,068,046 | T/C | — | uncertain significance |
| rs774149887 | 1:63,068,058 | G/A | — | likely benign |
| rs1462694532 | 1:63,069,649 | G/C | — | uncertain significance |
| rs372222044 | 1:63,069,664 | A/G | — | conflicting classifications of pathogenicity |
| rs200065546 | 1:63,069,706 | T/G | — | uncertain significance |
| rs12563308 | 1:63,069,711 | T/C | synonymous variant | benign |
| rs199555921 | 1:63,069,736 | A/G | — | conflicting classifications of pathogenicity |
| rs2526002809 | 1:63,069,777 | A/G | — | uncertain significance |
| rs763259225 | 1:63,069,797 | T/G | — | likely benign |
| rs753754473 | 1:63,069,799 | C/G | — | uncertain significance |
| rs148698903 | 1:63,069,800 | G/C | — | likely benign |
| rs757959826 | 1:63,069,806 | T/C | — | likely benign |
| rs777246274 | 1:63,069,812 | T/C | — | likely benign |
| rs151187179 | 1:63,069,820 | A/G | — | likely benign |
| rs145086916 | 1:63,069,830 | G/C | — | likely benign |
| rs2526005332 | 1:63,069,850 | T/C | — | uncertain significance |
| rs368728000 | 1:63,069,855 | A/T | — | uncertain significance |
| rs2526007278 | 1:63,069,902 | T/C | — | likely benign |
| rs398122985 | 1:63,069,907 | G/T | — | pathogenic |
| rs145059351 | 1:63,069,922 | A/G | — | benign |
| rs72651034 | 1:63,070,017 | G/A | — | likely benign |
| rs1457043867 | 1:63,070,296 | T/G | — | likely benign |
| rs763799677 | 1:63,070,323 | T/G | — | uncertain significance |
| rs755423135 | 1:63,070,403 | C/T | — | uncertain significance |
| rs1650714543 | 1:63,070,414 | C/A | — | uncertain significance |
| rs940005040 | 1:63,070,431 | C/T | — | likely benign |
| rs143404279 | 1:63,070,470 | T/G | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.