IMPG2
interphotoreceptor matrix proteoglycan 2
Summary
The protein encoded by this gene binds chondroitin sulfate and hyaluronan and is a proteoglycan. The encoded protein plays a role in the organization of the interphotoreceptor matrix and may promote the growth and maintenance of the light-sensitive photoreceptor outer segment. Defects in this gene are a cause of retinitis pigmentosa type 56 and maculopathy, IMPG2-related.[provided by RefSeq, Mar 2011]
Known Variants809 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs576192752 | 3:100,941,439 | T/C | — | uncertain significance |
| rs938158679 | 3:100,941,670 | T/C | — | uncertain significance |
| rs813449 | 3:100,941,692 | A/C | — | benign |
| rs886057664 | 3:100,941,705 | C/G | — | uncertain significance |
| rs886057665 | 3:100,941,753 | G/T | — | uncertain significance |
| rs528342516 | 3:100,941,839 | T/C | — | uncertain significance |
| rs190218454 | 3:100,941,864 | G/A | — | uncertain significance |
| rs181867679 | 3:100,941,988 | C/T | — | uncertain significance |
| rs561273259 | 3:100,941,989 | G/A | — | uncertain significance |
| rs511575 | 3:100,942,033 | A/T | — | benign |
| rs773704860 | 3:100,942,039 | C/T | — | uncertain significance |
| rs763292855 | 3:100,942,040 | G/A | — | uncertain significance |
| rs532966833 | 3:100,942,073 | G/A | — | uncertain significance |
| rs1706185172 | 3:100,942,155 | G/A | — | uncertain significance |
| rs1706185575 | 3:100,942,189 | A/C | — | uncertain significance |
| rs886057667 | 3:100,942,194 | G/A | — | uncertain significance |
| rs886057668 | 3:100,942,214 | T/C | — | uncertain significance |
| rs187040403 | 3:100,942,299 | G/A | — | uncertain significance |
| rs1039410358 | 3:100,942,346 | C/T | — | uncertain significance |
| rs753790568 | 3:100,942,526 | G/C | — | uncertain significance |
| rs886057669 | 3:100,942,578 | G/T | — | uncertain significance |
| rs921907957 | 3:100,942,661 | A/G | — | uncertain significance |
| rs566200595 | 3:100,942,710 | C/A | — | uncertain significance |
| rs112062476 | 3:100,942,764 | C/T | — | likely benign |
| rs553006996 | 3:100,942,806 | C/T | — | uncertain significance |
| rs950996646 | 3:100,942,847 | G/A | — | uncertain significance |
| rs117574754 | 3:100,942,896 | C/T | — | benign |
| rs138314103 | 3:100,942,904 | G/A | — | uncertain significance |
| rs77671634 | 3:100,942,928 | G/T | — | likely benign |
| rs184922362 | 3:100,942,944 | G/A | — | likely benign |
| rs1304041280 | 3:100,942,975 | C/G | — | uncertain significance |
| rs886057670 | 3:100,943,023 | C/A | — | uncertain significance |
| rs148335318 | 3:100,943,032 | G/A | — | uncertain significance |
| rs141519900 | 3:100,943,131 | A/G | — | uncertain significance |
| rs78391139 | 3:100,943,155 | C/A | — | uncertain significance |
| rs112670504 | 3:100,943,160 | A/G | — | uncertain significance |
| rs768294566 | 3:100,943,191 | T/C | — | uncertain significance |
| rs886057671 | 3:100,943,201 | A/T | — | uncertain significance |
| rs555283960 | 3:100,943,221 | A/G | — | uncertain significance |
| rs772636319 | 3:100,943,378 | A/G | — | uncertain significance |
| rs748729628 | 3:100,943,428 | A/T | — | uncertain significance |
| rs144532789 | 3:100,943,481 | A/G | — | uncertain significance |
| rs1207513458 | 3:100,943,484 | A/G | — | uncertain significance |
| rs72930551 | 3:100,943,535 | G/C | — | benign |
| rs531023160 | 3:100,943,571 | C/T | — | uncertain significance |
| rs973772805 | 3:100,943,639 | G/A | — | uncertain significance |
| rs1484104523 | 3:100,943,771 | C/G | — | uncertain significance |
| rs113855688 | 3:100,943,859 | C/T | — | likely benign |
| rs6796058 | 3:100,944,076 | A/G | — | benign |
| rs1706207587 | 3:100,944,078 | G/A | — | uncertain significance |
| rs1706207757 | 3:100,944,094 | T/C | — | uncertain significance |
| rs570822374 | 3:100,944,213 | G/A | — | uncertain significance |
| rs534752065 | 3:100,944,214 | C/T | — | uncertain significance |
| rs886057673 | 3:100,944,215 | G/A | — | uncertain significance |
| rs59589993 | 3:100,944,218 | C/T | — | likely benign |
| rs6798685 | 3:100,944,224 | T/C | — | benign |
| rs886057674 | 3:100,944,235 | G/A | — | uncertain significance |
| rs73156011 | 3:100,944,259 | G/A | — | uncertain significance |
| rs74871601 | 3:100,944,262 | C/T | — | uncertain significance |
| rs539098 | 3:100,944,271 | T/A | — | uncertain significance |
| rs886057675 | 3:100,944,366 | G/A | — | uncertain significance |
| rs116405398 | 3:100,944,531 | G/A | — | likely benign |
| rs560772211 | 3:100,944,651 | A/G | — | uncertain significance |
| rs1706217782 | 3:100,944,869 | T/C | — | uncertain significance |
| rs1706218125 | 3:100,944,915 | A/C | — | uncertain significance |
| rs75852013 | 3:100,944,932 | A/G | — | benign |
| rs1706218494 | 3:100,944,939 | A/G | — | uncertain significance |
| rs1201916028 | 3:100,944,945 | G/A | — | uncertain significance |
| rs886057676 | 3:100,944,977 | T/C | — | uncertain significance |
| rs536881753 | 3:100,945,003 | G/A | — | uncertain significance |
| rs537248333 | 3:100,945,128 | T/C | — | conflicting classifications of pathogenicity |
| rs1381026736 | 3:100,945,244 | C/G | — | uncertain significance |
| rs486814 | 3:100,945,245 | G/T | — | benign |
| rs995361821 | 3:100,945,248 | T/A | — | uncertain significance |
| rs1576740618 | 3:100,945,250 | C/A | — | uncertain significance |
| rs191621154 | 3:100,945,342 | T/A | — | uncertain significance |
| rs115295966 | 3:100,945,367 | C/T | — | likely benign |
| rs115229467 | 3:100,945,369 | C/T | — | likely benign |
| rs886057683 | 3:100,945,383 | A/G | — | uncertain significance |
| rs151199078 | 3:100,945,387 | C/T | — | uncertain significance |
| rs114271586 | 3:100,945,425 | T/C | — | uncertain significance |
| rs488679 | 3:100,945,433 | G/T | — | benign |
| rs764107922 | 3:100,945,441 | T/G | — | uncertain significance |
| rs191595733 | 3:100,945,442 | C/T | — | uncertain significance |
| rs568108242 | 3:100,945,445 | C/T | — | uncertain significance |
| rs886057684 | 3:100,945,468 | G/A | — | uncertain significance |
| rs111515750 | 3:100,945,513 | A/C | — | uncertain significance |
| rs73863023 | 3:100,945,553 | T/C | — | likely benign |
| rs981935479 | 3:100,945,601 | C/A | — | uncertain significance |
| rs193277987 | 3:100,945,633 | A/C | — | uncertain significance |
| rs376291735 | 3:100,945,679 | G/A | — | uncertain significance |
| rs377140286 | 3:100,945,768 | C/T | — | uncertain significance |
| rs766341426 | 3:100,945,839 | A/G | — | likely benign |
| rs1451358051 | 3:100,945,844 | G/C | — | likely benign |
| rs768729314 | 3:100,947,621 | G/T | — | likely benign |
| rs373459877 | 3:100,947,634 | A/C | — | likely benign |
| rs1706250496 | 3:100,947,636 | C/T | — | conflicting classifications of pathogenicity |
| rs1706250526 | 3:100,947,642 | C/G | — | uncertain significance |
| rs750183083 | 3:100,947,651 | C/G | — | uncertain significance |
| rs377428968 | 3:100,947,662 | G/A | — | uncertain significance |
Showing 100 of 809 variants. Use the SNP search for the full list.
Gene information from NCBI Gene. Variant classifications from ClinVar.