C4BPA
complement component 4 binding protein alpha
Summary
This gene encodes a member of a superfamily of proteins composed predominantly of tandemly arrayed short consensus repeats of approximately 60 amino acids. Along with a single, unique beta-chain, seven identical alpha-chains encoded by this gene assemble into the predominant isoform of C4b-binding protein, a multimeric protein that controls activation of the complement cascade through the classical pathway. The genes encoding both alpha and beta chains are located adjacent to each other on human chromosome 1 in the regulator of complement activation gene cluster. Two pseudogenes of this gene are also found in the cluster. [provided by RefSeq, Jul 2008]
Known Variants60 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs12065624 | 1:207,280,739 | A/T | intron variant | — |
| rs577695638 | 1:207,285,043 | A/C | — | — |
| rs12074166 | 1:207,285,705 | T/G | — | — |
| rs12072216 | 1:207,286,380 | C/G | — | benign |
| rs55867570 | 1:207,286,381 | C/A | — | benign |
| rs374378424 | 1:207,286,390 | C/T | — | uncertain significance |
| rs201884248 | 1:207,286,398 | G/A | — | likely benign |
| rs2526379836 | 1:207,286,399 | C/T | — | uncertain significance |
| rs74867186 | 1:207,286,409 | A/G | — | benign |
| rs766772867 | 1:207,286,428 | T/C | — | uncertain significance |
| rs988379438 | 1:207,286,440 | A/G | — | uncertain significance |
| rs549139180 | 1:207,286,456 | C/T | — | uncertain significance |
| rs116810489 | 1:207,286,467 | C/G | — | benign |
| rs12075573 | 1:207,286,757 | T/C | — | benign |
| rs2808470 | 1:207,287,187 | C/T | — | benign |
| rs1177197334 | 1:207,287,454 | G/A | — | likely benign |
| rs17020956 | 1:207,287,481 | C/T | — | benign |
| rs778061020 | 1:207,287,529 | C/T | — | uncertain significance |
| rs2526390210 | 1:207,288,782 | G/A | — | uncertain significance |
| rs12031629 | 1:207,288,897 | T/C | — | benign |
| rs2842707 | 1:207,297,484 | G/C | — | benign |
| rs143323893 | 1:207,297,591 | G/A | — | uncertain significance |
| rs751883518 | 1:207,297,610 | G/T | — | uncertain significance |
| rs140603272 | 1:207,297,622 | G/A | — | uncertain significance |
| rs2526419842 | 1:207,297,645 | T/A | — | uncertain significance |
| rs116795518 | 1:207,297,676 | T/C | — | benign |
| rs1126618 | 1:207,297,680 | T/C | — | benign |
| rs935418904 | 1:207,297,682 | T/C | — | uncertain significance |
| rs45574833 | 1:207,300,070 | A/G | — | benign |
| rs950393470 | 1:207,300,084 | T/G | — | uncertain significance |
| rs1485751096 | 1:207,300,138 | A/G | — | uncertain significance |
| rs2491393 | 1:207,300,259 | G/A | — | benign |
| rs2491394 | 1:207,300,381 | T/A | — | benign |
| rs55937600 | 1:207,303,615 | A/T | intron variant | — |
| rs4844573 | 1:207,304,900 | T/C | — | benign |
| rs757320487 | 1:207,304,947 | C/T | — | uncertain significance |
| rs1439809008 | 1:207,304,958 | G/C | — | uncertain significance |
| rs1159213400 | 1:207,304,981 | T/C | — | uncertain significance |
| rs1293892705 | 1:207,305,013 | C/A | — | uncertain significance |
| rs765048329 | 1:207,305,067 | C/T | — | uncertain significance |
| rs6663608 | 1:207,305,069 | A/C | — | benign |
| rs773019703 | 1:207,307,807 | T/G | — | uncertain significance |
| rs760726989 | 1:207,307,808 | C/A | — | uncertain significance |
| rs1486379393 | 1:207,307,818 | A/G | — | uncertain significance |
| rs116700161 | 1:207,307,932 | G/A | missense variant | — |
| rs12091603 | 1:207,314,356 | A/C | — | benign |
| rs12043615 | 1:207,314,388 | T/C | — | benign |
| rs750449256 | 1:207,314,468 | A/G | — | uncertain significance |
| rs372141397 | 1:207,314,552 | A/C | — | uncertain significance |
| rs151108669 | 1:207,317,172 | G/A | — | benign |
| rs1024465421 | 1:207,317,186 | G/A | — | uncertain significance |
| rs778514305 | 1:207,317,222 | G/A | — | uncertain significance |
| rs1408336352 | 1:207,317,289 | C/A | — | uncertain significance |
| rs73079153 | 1:207,317,788 | G/C | — | benign |
| rs544763652 | 1:207,317,897 | C/T | — | likely benign |
| rs770445743 | 1:207,318,001 | T/C | — | uncertain significance |
| rs369244342 | 1:207,318,030 | G/A | — | uncertain significance |
| rs1489270498 | 1:207,318,031 | C/T | — | uncertain significance |
| rs2526515380 | 1:207,318,045 | T/G | — | uncertain significance |
| rs2526515405 | 1:207,318,049 | A/G | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.