RHOH
ras homolog family member H
Summary
The protein encoded by this gene is a member of the Ras superfamily of guanosine triphosphate (GTP)-metabolizing enzymes. The encoded protein is expressed in hematopoietic cells, where it functions as a negative regulator of cell growth and survival. This gene may be hypermutated or misexpressed in leukemias and lymphomas. Chromosomal translocations in non-Hodgkin's lymphoma occur between this locus and B-cell CLL/lymphoma 6 (BCL6) on chromosome 3, leading to the production of fusion transcripts. Alternative splicing in the 5' untranslated region results in multiple transcript variants that encode the same protein. [provided by RefSeq, May 2013]
Known Variants67 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs770031153 | 4:40,212,518 | C/G | — | — |
| rs556502687 | 4:40,237,613 | A/G | — | — |
| rs146170789 | 4:40,245,006 | G/A | — | likely benign |
| rs769462356 | 4:40,245,024 | G/A | — | likely benign |
| rs764310455 | 4:40,245,033 | G/A | — | likely benign |
| rs2109588980 | 4:40,245,035 | T/C | — | uncertain significance |
| rs200253960 | 4:40,245,039 | C/T | — | likely benign |
| rs114176176 | 4:40,245,048 | T/C | — | likely benign |
| rs575059532 | 4:40,245,054 | G/C | — | likely benign |
| rs758225526 | 4:40,245,081 | C/T | — | likely benign |
| rs1398653997 | 4:40,245,084 | C/T | — | likely benign |
| rs1434343798 | 4:40,245,094 | C/T | — | uncertain significance |
| rs777698365 | 4:40,245,095 | C/T | — | uncertain significance |
| rs747006254 | 4:40,245,105 | C/T | — | likely benign |
| rs370515707 | 4:40,245,107 | A/G | — | uncertain significance |
| rs2109589659 | 4:40,245,111 | C/T | — | likely benign |
| rs773779601 | 4:40,245,120 | C/T | — | likely benign |
| rs1020998291 | 4:40,245,132 | G/C | — | likely benign |
| rs773671410 | 4:40,245,138 | C/T | — | likely benign |
| rs2530994022 | 4:40,245,145 | A/C | — | uncertain significance |
| rs76788449 | 4:40,245,150 | T/C | — | likely benign |
| rs1391559187 | 4:40,245,171 | C/T | — | likely benign |
| rs751373133 | 4:40,245,180 | C/T | — | likely benign |
| rs757065652 | 4:40,245,186 | C/T | — | likely benign |
| rs1000856485 | 4:40,245,187 | G/A | — | uncertain significance |
| rs2109590422 | 4:40,245,194 | A/T | — | uncertain significance |
| rs1346989432 | 4:40,245,195 | C/T | — | likely benign |
| rs2530994750 | 4:40,245,196 | G/T | — | uncertain significance |
| rs1018020034 | 4:40,245,198 | C/T | — | likely benign |
| rs200579964 | 4:40,245,208 | A/G | — | uncertain significance |
| rs1196654428 | 4:40,245,213 | G/A | — | likely benign |
| rs768275793 | 4:40,245,225 | C/T | — | likely benign |
| rs1729530330 | 4:40,245,232 | G/C | — | uncertain significance |
| rs145528494 | 4:40,245,237 | C/T | — | likely benign |
| rs1729532222 | 4:40,245,247 | A/G | — | uncertain significance |
| rs772358568 | 4:40,245,258 | T/G | — | likely benign |
| rs115314968 | 4:40,245,269 | A/G | — | uncertain significance |
| rs1579353654 | 4:40,245,286 | T/C | — | likely benign |
| rs765575265 | 4:40,245,316 | A/G | — | uncertain significance |
| rs767409335 | 4:40,245,337 | G/C | — | uncertain significance |
| rs2530996795 | 4:40,245,342 | G/A | — | likely benign |
| rs1560290956 | 4:40,245,345 | G/A | — | likely benign |
| rs772482266 | 4:40,245,396 | C/T | — | likely benign |
| rs372713940 | 4:40,245,397 | G/A | — | uncertain significance |
| rs1729555779 | 4:40,245,401 | A/G | — | uncertain significance |
| rs375085869 | 4:40,245,405 | C/T | — | likely benign |
| rs747591518 | 4:40,245,407 | T/C | — | uncertain significance |
| rs368977127 | 4:40,245,414 | G/A | — | likely benign |
| rs1486441608 | 4:40,245,421 | C/G | — | uncertain significance |
| rs2109592369 | 4:40,245,428 | A/G | — | uncertain significance |
| rs2109592421 | 4:40,245,442 | A/C | — | uncertain significance |
| rs1729560219 | 4:40,245,443 | A/C | — | uncertain significance |
| rs759717838 | 4:40,245,451 | C/T | — | likely benign |
| rs769924998 | 4:40,245,475 | C/A | — | likely benign |
| rs775914843 | 4:40,245,476 | G/A | — | uncertain significance |
| rs774982598 | 4:40,245,501 | C/T | — | likely benign |
| rs750167394 | 4:40,245,502 | G/A | — | uncertain significance |
| rs371722683 | 4:40,245,504 | C/T | — | likely benign |
| rs1294195721 | 4:40,245,509 | G/A | — | uncertain significance |
| rs61731758 | 4:40,245,516 | C/G | — | likely benign |
| rs114085656 | 4:40,245,517 | G/A | — | likely benign |
| rs1729572776 | 4:40,245,521 | A/G | — | uncertain significance |
| rs1244021714 | 4:40,245,536 | G/A | — | uncertain significance |
| rs747353195 | 4:40,245,544 | A/T | — | uncertain significance |
| rs781552168 | 4:40,245,552 | C/T | — | likely benign |
| rs2530999993 | 4:40,245,564 | T/C | — | likely benign |
| rs2109593740 | 4:40,245,576 | C/T | — | likely benign |
Gene information from NCBI Gene. Variant classifications from ClinVar.