IGFALS
insulin like growth factor binding protein acid labile subunit
Summary
The protein encoded by this gene is a serum protein that binds insulin-like growth factors, increasing their half-life and their vascular localization. Production of the encoded protein, which contains twenty leucine-rich repeats, is stimulated by growth hormone. Defects in this gene are a cause of acid-labile subunit deficiency, which maifests itself in a delayed and slow puberty. Three transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Mar 2009]
Known Variants169 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs761476982 | 16:1,840,426 | G/A | — | likely benign |
| rs781667184 | 16:1,840,446 | A/C | — | likely benign |
| rs886051773 | 16:1,840,461 | G/A | — | uncertain significance |
| rs886051774 | 16:1,840,499 | G/C | — | uncertain significance |
| rs772965953 | 16:1,840,518 | C/T | — | uncertain significance |
| rs753450047 | 16:1,840,528 | A/G | — | uncertain significance |
| rs545977647 | 16:1,840,551 | A/G | — | uncertain significance |
| rs528356919 | 16:1,840,566 | G/C | — | uncertain significance |
| rs746231566 | 16:1,840,578 | G/A | — | uncertain significance |
| rs2548155521 | 16:1,840,601 | T/A | — | uncertain significance |
| rs771980337 | 16:1,840,624 | C/T | — | uncertain significance |
| rs1567240236 | 16:1,840,632 | T/C | — | uncertain significance |
| rs776312123 | 16:1,840,636 | G/A | — | uncertain significance |
| rs767802552 | 16:1,840,640 | G/C | — | uncertain significance |
| rs1897196534 | 16:1,840,642 | C/T | — | uncertain significance |
| rs2142010110 | 16:1,840,647 | C/T | — | uncertain significance |
| rs373938170 | 16:1,840,657 | C/T | — | uncertain significance |
| rs770945305 | 16:1,840,695 | G/A | — | uncertain significance |
| rs533252393 | 16:1,840,701 | G/A | — | uncertain significance |
| rs143070371 | 16:1,840,711 | C/T | — | uncertain significance |
| rs1379588956 | 16:1,840,722 | C/T | — | uncertain significance |
| rs886051775 | 16:1,840,725 | A/G | — | uncertain significance |
| rs200313587 | 16:1,840,741 | G/A | — | uncertain significance |
| rs753982847 | 16:1,840,768 | C/T | — | uncertain significance |
| rs773976260 | 16:1,840,776 | C/T | — | uncertain significance |
| rs9282731 | 16:1,840,777 | G/A | — | benign |
| rs1472373921 | 16:1,840,797 | C/T | — | uncertain significance |
| rs121909247 | 16:1,840,801 | A/G | missense variant | pathogenic |
| rs2548155754 | 16:1,840,821 | A/G | — | uncertain significance |
| rs760061243 | 16:1,840,850 | C/T | — | likely benign |
| rs2230053 | 16:1,840,853 | C/T | — | benign |
| rs368049621 | 16:1,840,893 | C/T | — | likely benign |
| rs780196950 | 16:1,840,894 | G/T | — | uncertain significance |
| rs141460735 | 16:1,840,903 | C/T | — | conflicting classifications of pathogenicity |
| rs9282730 | 16:1,840,927 | G/A | — | conflicting classifications of pathogenicity |
| rs1238193712 | 16:1,840,931 | T/C | — | uncertain significance |
| rs200380381 | 16:1,840,941 | C/T | — | uncertain significance |
| rs544452737 | 16:1,840,942 | G/A | — | uncertain significance |
| rs769032694 | 16:1,840,944 | T/C | — | uncertain significance |
| rs886051776 | 16:1,840,953 | A/G | — | uncertain significance |
| rs372565928 | 16:1,840,954 | C/T | — | uncertain significance |
| rs113804102 | 16:1,840,958 | C/A | — | benign |
| rs940549283 | 16:1,840,972 | G/A | — | uncertain significance |
| rs2548155936 | 16:1,840,973 | C/T | — | likely benign |
| rs182305760 | 16:1,840,983 | C/T | — | conflicting classifications of pathogenicity |
| rs9282729 | 16:1,840,994 | C/T | — | benign |
| rs1053975229 | 16:1,841,004 | T/G | — | likely benign |
| rs762140953 | 16:1,841,005 | C/G | — | uncertain significance |
| rs548958500 | 16:1,841,013 | C/T | — | conflicting classifications of pathogenicity |
| rs373710655 | 16:1,841,020 | G/A | — | uncertain significance |
| rs17559 | 16:1,841,033 | G/A | — | benign |
| rs149707428 | 16:1,841,062 | G/C | — | uncertain significance |
| rs745430262 | 16:1,841,071 | G/A | — | uncertain significance |
| rs916659112 | 16:1,841,081 | G/A | — | likely benign |
| rs1344337662 | 16:1,841,126 | C/T | — | likely pathogenic |
| rs755775132 | 16:1,841,128 | — | — | pathogenic |
| rs1262115121 | 16:1,841,148 | C/G | — | likely benign |
| rs36068954 | 16:1,841,153 | G/A | — | conflicting classifications of pathogenicity |
| rs1443814659 | 16:1,841,178 | C/T | — | uncertain significance |
| rs767089671 | 16:1,841,190 | G/A | — | uncertain significance |
| rs781519921 | 16:1,841,220 | C/T | — | uncertain significance |
| rs746108965 | 16:1,841,221 | G/A | — | uncertain significance |
| rs35128702 | 16:1,841,224 | C/T | — | conflicting classifications of pathogenicity |
| rs886051777 | 16:1,841,246 | C/T | — | uncertain significance |
| rs147555919 | 16:1,841,271 | C/T | — | likely benign |
| rs766102791 | 16:1,841,276 | C/A | — | likely benign |
| rs202131276 | 16:1,841,286 | G/A | — | uncertain significance |
| rs1269099489 | 16:1,841,292 | T/C | — | uncertain significance |
| rs780388342 | 16:1,841,295 | C/T | — | uncertain significance |
| rs149041489 | 16:1,841,296 | G/A | — | uncertain significance |
| rs773502836 | 16:1,841,325 | G/A | — | uncertain significance |
| rs1324239103 | 16:1,841,341 | C/G | — | uncertain significance |
| rs200778437 | 16:1,841,354 | C/T | — | uncertain significance |
| rs775129479 | 16:1,841,388 | G/A | — | uncertain significance |
| rs370683639 | 16:1,841,424 | C/T | — | uncertain significance |
| rs1294715942 | 16:1,841,439 | C/T | — | uncertain significance |
| rs200009743 | 16:1,841,445 | C/T | — | uncertain significance |
| rs768231769 | 16:1,841,461 | G/A | — | conflicting classifications of pathogenicity |
| rs761212449 | 16:1,841,463 | A/C | — | uncertain significance |
| rs752940151 | 16:1,841,478 | T/A | — | uncertain significance |
| rs201622145 | 16:1,841,496 | C/T | — | uncertain significance |
| rs34297640 | 16:1,841,499 | G/A | — | likely benign |
| rs201176815 | 16:1,841,502 | C/T | — | uncertain significance |
| rs1344866257 | 16:1,841,503 | G/A | — | uncertain significance |
| rs1172812314 | 16:1,841,521 | T/C | — | uncertain significance |
| rs2548156485 | 16:1,841,530 | G/T | — | uncertain significance |
| rs761807331 | 16:1,841,547 | C/T | — | uncertain significance |
| rs767507229 | 16:1,841,557 | C/T | — | uncertain significance |
| rs750405773 | 16:1,841,558 | G/A | — | conflicting classifications of pathogenicity |
| rs35706152 | 16:1,841,559 | G/A | — | conflicting classifications of pathogenicity |
| rs1472084658 | 16:1,841,586 | A/C | — | uncertain significance |
| rs551618643 | 16:1,841,592 | T/C | missense variant | pathogenic |
| rs369679075 | 16:1,841,606 | C/G | — | benign |
| rs534175817 | 16:1,841,609 | C/G | — | uncertain significance |
| rs35632685 | 16:1,841,618 | C/T | — | benign |
| rs376070681 | 16:1,841,642 | C/T | — | conflicting classifications of pathogenicity |
| rs2548156584 | 16:1,841,644 | G/T | — | uncertain significance |
| rs754732601 | 16:1,841,646 | G/A | — | uncertain significance |
| rs141404750 | 16:1,841,668 | G/A | — | uncertain significance |
| rs77490547 | 16:1,841,711 | G/A | — | benign |
Showing 100 of 169 variants. Use the SNP search for the full list.
Gene information from NCBI Gene. Variant classifications from ClinVar.