ARHGEF28
Rho guanine nucleotide exchange factor 28
Summary
This gene encodes a member of the Rho guanine nucleotide exchange factor family. The encoded protein interacts with low molecular weight neurofilament mRNA and may be involved in the formation of amyotrophic lateral sclerosis neurofilament aggregates. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Apr 2010]
Known Variants296 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs6881956 | 5:72,926,514 | A/T | — | — |
| rs1421656 | 5:72,928,034 | A/G | intron variant | — |
| rs7730596 | 5:72,957,362 | T/A | — | — |
| rs12516123 | 5:72,970,537 | C/T | — | — |
| rs77528424 | 5:72,980,374 | T/G | — | benign |
| rs371272526 | 5:72,980,695 | G/A | — | uncertain significance |
| rs16870681 | 5:72,980,837 | A/G | — | benign |
| rs10755296 | 5:72,980,869 | C/G | — | benign |
| rs56301247 | 5:72,985,900 | G/A | — | — |
| rs16870761 | 5:73,045,422 | G/C | — | benign |
| rs116554772 | 5:73,045,479 | A/G | — | benign |
| rs17552626 | 5:73,045,506 | C/T | — | benign |
| rs757452890 | 5:73,045,664 | G/A | — | likely benign |
| rs200289106 | 5:73,045,761 | A/G | — | likely benign |
| rs376225594 | 5:73,048,751 | A/T | — | uncertain significance |
| rs201258223 | 5:73,048,752 | C/T | — | likely benign |
| rs753961568 | 5:73,048,753 | G/A | — | likely benign |
| rs760832880 | 5:73,048,802 | A/G | — | uncertain significance |
| rs369392224 | 5:73,048,817 | G/C | — | uncertain significance |
| rs17552682 | 5:73,048,819 | G/A | — | benign |
| rs191563093 | 5:73,048,867 | G/T | — | likely benign |
| rs202122468 | 5:73,048,875 | A/G | — | benign |
| rs377228313 | 5:73,048,912 | C/T | — | likely benign |
| rs370473647 | 5:73,048,926 | C/T | — | uncertain significance |
| rs200456357 | 5:73,048,932 | G/C | — | likely benign |
| rs368285021 | 5:73,048,936 | A/G | — | benign |
| rs1476513959 | 5:73,048,961 | G/A | — | uncertain significance |
| rs764944223 | 5:73,048,994 | G/A | — | uncertain significance |
| rs79391401 | 5:73,069,580 | T/C | — | benign |
| rs4704097 | 5:73,069,581 | A/G | — | benign |
| rs373137865 | 5:73,069,761 | C/T | — | likely benign |
| rs565461504 | 5:73,069,765 | G/T | — | likely benign |
| rs1169173195 | 5:73,069,788 | C/T | — | uncertain significance |
| rs768556244 | 5:73,069,791 | A/G | — | uncertain significance |
| rs369842264 | 5:73,069,793 | G/A | — | uncertain significance |
| rs373182168 | 5:73,069,807 | A/G | — | likely benign |
| rs112237001 | 5:73,069,826 | C/T | — | uncertain significance |
| rs376157847 | 5:73,069,849 | G/A | — | likely benign |
| rs10065074 | 5:73,070,032 | G/A | — | benign |
| rs1440166244 | 5:73,072,351 | A/G | — | uncertain significance |
| rs7714670 | 5:73,072,354 | T/C | missense variant | benign |
| rs755904439 | 5:73,072,369 | T/C | — | uncertain significance |
| rs371703887 | 5:73,072,393 | G/A | — | uncertain significance |
| rs375000790 | 5:73,072,424 | C/T | — | uncertain significance |
| rs543088628 | 5:73,072,425 | G/A | — | likely benign |
| rs771722498 | 5:73,072,448 | C/T | — | uncertain significance |
| rs372020476 | 5:73,072,452 | C/T | — | likely benign |
| rs184555497 | 5:73,072,501 | G/T | — | likely benign |
| rs10473959 | 5:73,072,504 | A/C | — | benign |
| rs377595018 | 5:73,072,527 | T/C | — | likely benign |
| rs143387976 | 5:73,072,530 | G/A | — | likely benign |
| rs6871548 | 5:73,076,024 | C/G | — | — |
| rs11949860 | 5:73,076,457 | G/A | — | benign |
| rs6453022 | 5:73,076,511 | C/A | — | benign |
| rs1183096214 | 5:73,076,525 | G/C | — | uncertain significance |
| rs866963852 | 5:73,076,532 | G/A | — | uncertain significance |
| rs1481188795 | 5:73,076,537 | G/A | — | uncertain significance |
| rs780509291 | 5:73,076,551 | C/A | — | uncertain significance |
| rs79395736 | 5:73,089,939 | G/A | — | benign |
| rs12653477 | 5:73,090,089 | T/G | — | benign |
| rs536597186 | 5:73,090,249 | C/T | — | likely benign |
| rs7716253 | 5:73,090,261 | T/C | — | benign |
| rs78041050 | 5:73,090,267 | G/A | — | benign |
| rs12522708 | 5:73,090,494 | C/T | — | benign |
| rs7712814 | 5:73,090,533 | A/G | — | benign |
| rs7716722 | 5:73,090,534 | T/C | — | benign |
| rs146697309 | 5:73,090,570 | T/A | — | benign |
| rs12517473 | 5:73,090,577 | G/A | — | benign |
| rs2973549 | 5:73,091,126 | T/A | — | benign |
| rs73118524 | 5:73,091,149 | C/T | — | benign |
| rs201283070 | 5:73,091,156 | C/T | — | benign |
| rs557233944 | 5:73,091,157 | G/A | — | uncertain significance |
| rs181157014 | 5:73,091,203 | C/G | — | uncertain significance |
| rs2973548 | 5:73,091,228 | C/T | — | benign |
| rs7722018 | 5:73,091,505 | T/C | — | benign |
| rs78818982 | 5:73,109,428 | C/T | — | benign |
| rs1258095049 | 5:73,109,433 | C/T | — | uncertain significance |
| rs981378727 | 5:73,109,449 | G/A | — | likely benign |
| rs143394331 | 5:73,109,488 | A/G | — | benign |
| rs62357757 | 5:73,127,848 | T/C | — | benign |
| rs7724088 | 5:73,127,862 | G/A | — | benign |
| rs200557234 | 5:73,128,165 | C/T | — | uncertain significance |
| rs187897891 | 5:73,128,166 | G/A | — | likely benign |
| rs200126260 | 5:73,128,196 | C/T | — | likely benign |
| rs2531508329 | 5:73,128,216 | G/A | — | uncertain significance |
| rs761313251 | 5:73,128,236 | G/A | — | uncertain significance |
| rs72772509 | 5:73,128,546 | C/T | — | benign |
| rs1308242633 | 5:73,136,378 | G/A | — | uncertain significance |
| rs200853342 | 5:73,136,428 | C/T | — | uncertain significance |
| rs199889911 | 5:73,136,434 | G/A | — | likely benign |
| rs369396839 | 5:73,136,440 | C/T | — | uncertain significance |
| rs922588511 | 5:73,136,495 | T/C | — | uncertain significance |
| rs373253212 | 5:73,136,510 | C/T | — | uncertain significance |
| rs2973574 | 5:73,136,718 | T/G | — | benign |
| rs201040309 | 5:73,141,826 | A/G | — | benign |
| rs2973572 | 5:73,141,894 | T/C | — | benign |
| rs370211442 | 5:73,142,117 | C/T | — | likely benign |
| rs145750801 | 5:73,142,164 | C/T | — | uncertain significance |
| rs374237927 | 5:73,142,168 | A/G | — | likely benign |
| rs994798495 | 5:73,142,179 | G/A | — | uncertain significance |
Showing 100 of 296 variants. Use the SNP search for the full list.
Gene information from NCBI Gene. Variant classifications from ClinVar.