ITIH1
inter-alpha-trypsin inhibitor heavy chain 1
Summary
This gene encodes a member of the inter-alpha-trypsin inhibitor family of proteins. Alternative splicing results in multiple transcript variants, at least one of which encodes a preproprotein that is proteolytically processed to generate the heavy chain of the inter-alpha-trypsin inhibitor complex, which is secreted by hepatocytes into the blood. The heavy chain also interacts with hyaluronan, and this interaction may play a role in ovulation and fertilization, and has been implicated in multiple inflammatory diseases. This gene is present in a gene cluster on chromosome 3. [provided by RefSeq, Nov 2015]
Known Variants77 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs369079191 | 3:52,811,637 | C/A | — | uncertain significance |
| rs1698939550 | 3:52,811,639 | G/A | — | uncertain significance |
| rs372130226 | 3:52,811,654 | G/A | — | uncertain significance |
| rs376977019 | 3:52,811,671 | A/G | — | likely benign |
| rs755344777 | 3:52,811,722 | G/C | — | likely benign |
| rs202213434 | 3:52,811,746 | G/A | — | likely benign |
| rs201399012 | 3:52,812,368 | G/A | — | uncertain significance |
| rs150656991 | 3:52,812,378 | G/A | — | uncertain significance |
| rs2552121563 | 3:52,812,425 | G/C | — | uncertain significance |
| rs868112474 | 3:52,812,503 | T/C | — | uncertain significance |
| rs200146582 | 3:52,812,960 | C/T | — | uncertain significance |
| rs151186293 | 3:52,812,973 | C/A | — | uncertain significance |
| rs1698973781 | 3:52,812,990 | T/A | — | uncertain significance |
| rs1698973921 | 3:52,812,993 | A/G | — | uncertain significance |
| rs768299617 | 3:52,813,453 | C/T | — | uncertain significance |
| rs756832122 | 3:52,813,497 | C/A | — | uncertain significance |
| rs780812338 | 3:52,813,504 | G/A | — | uncertain significance |
| rs1047187305 | 3:52,814,303 | G/A | — | uncertain significance |
| rs2710323 | 3:52,815,905 | T/C | intron variant | — |
| rs756559645 | 3:52,816,218 | A/G | — | uncertain significance |
| rs2552122629 | 3:52,816,258 | C/T | — | uncertain significance |
| rs143918452 | 3:52,816,840 | G/A | intron variant | — |
| rs1233559583 | 3:52,817,003 | G/A | — | uncertain significance |
| rs2552122982 | 3:52,817,033 | G/T | — | uncertain significance |
| rs146475990 | 3:52,817,069 | T/G | — | uncertain significance |
| rs148820588 | 3:52,817,130 | C/A | — | uncertain significance |
| rs2710322 | 3:52,817,593 | T/C | intron variant | — |
| rs576348078 | 3:52,818,348 | G/T | — | uncertain significance |
| rs200097012 | 3:52,818,359 | C/T | — | uncertain significance |
| rs1249580891 | 3:52,818,370 | C/G | — | uncertain significance |
| rs1424177667 | 3:52,818,380 | A/G | — | uncertain significance |
| rs749748635 | 3:52,818,392 | G/A | — | uncertain significance |
| rs755447306 | 3:52,818,398 | A/T | — | uncertain significance |
| rs776388320 | 3:52,818,423 | T/C | — | uncertain significance |
| rs561445407 | 3:52,818,427 | G/T | — | uncertain significance |
| rs148659769 | 3:52,818,443 | G/A | — | uncertain significance |
| rs118038389 | 3:52,819,084 | C/T | — | uncertain significance |
| rs117815982 | 3:52,819,119 | G/A | — | benign |
| rs904675241 | 3:52,819,123 | G/T | — | uncertain significance |
| rs138759788 | 3:52,819,144 | A/G | — | uncertain significance |
| rs201320586 | 3:52,819,189 | G/A | — | uncertain significance |
| rs374657373 | 3:52,819,197 | T/G | — | uncertain significance |
| rs757860229 | 3:52,819,240 | C/T | — | uncertain significance |
| rs768997090 | 3:52,820,372 | G/A | — | likely benign |
| rs1699201955 | 3:52,820,396 | A/G | — | uncertain significance |
| rs367809051 | 3:52,820,407 | C/T | — | uncertain significance |
| rs678 | 3:52,820,981 | A/T | — | benign |
| rs1042779 | 3:52,821,011 | A/G | missense variant | benign |
| rs201697654 | 3:52,821,041 | C/G | — | uncertain significance |
| rs2552123961 | 3:52,821,611 | T/A | — | uncertain significance |
| rs1699247417 | 3:52,822,050 | A/G | — | uncertain significance |
| rs761089193 | 3:52,822,277 | G/A | — | uncertain significance |
| rs201884766 | 3:52,822,314 | A/G | — | uncertain significance |
| rs748329460 | 3:52,822,352 | C/T | — | uncertain significance |
| rs2284351 | 3:52,822,789 | T/C | intron variant | — |
| rs768181323 | 3:52,823,717 | G/T | — | uncertain significance |
| rs142551669 | 3:52,823,740 | G/A | — | uncertain significance |
| rs200937858 | 3:52,823,743 | C/T | — | uncertain significance |
| rs765342533 | 3:52,823,744 | G/A | — | uncertain significance |
| rs376776792 | 3:52,823,804 | C/T | — | uncertain significance |
| rs1370779957 | 3:52,823,850 | A/T | — | uncertain significance |
| rs202159479 | 3:52,823,861 | G/A | — | uncertain significance |
| rs61730358 | 3:52,823,864 | A/T | — | benign |
| rs146607393 | 3:52,824,813 | C/T | — | likely benign |
| rs775457232 | 3:52,824,814 | G/A | — | uncertain significance |
| rs768471785 | 3:52,824,817 | G/A | — | uncertain significance |
| rs150275930 | 3:52,824,821 | G/A | — | uncertain significance |
| rs144224070 | 3:52,824,845 | G/A | — | uncertain significance |
| rs200534290 | 3:52,824,890 | A/G | — | uncertain significance |
| rs370278205 | 3:52,824,907 | C/T | — | uncertain significance |
| rs140521543 | 3:52,824,912 | G/A | — | uncertain significance |
| rs150805073 | 3:52,824,920 | G/A | — | uncertain significance |
| rs777431003 | 3:52,825,544 | C/T | — | uncertain significance |
| rs1365599235 | 3:52,825,545 | A/G | — | uncertain significance |
| rs765983118 | 3:52,825,608 | C/T | — | uncertain significance |
| rs774375083 | 3:52,825,827 | C/T | — | uncertain significance |
| rs139822553 | 3:52,825,833 | A/G | — | conflicting classifications of pathogenicity |
Gene information from NCBI Gene. Variant classifications from ClinVar.