PLRG1
pleiotropic regulator 1
Summary
This gene encodes a core component of the cell division cycle 5-like (CDC5L) complex. The CDC5L complex is part of the spliceosome and is required for pre-mRNA splicing. The encoded protein plays a critical role in alternative splice site selection. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Jan 2011]
Known Variants26 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs2530704751 | 4:155,458,509 | G/C | — | uncertain significance |
| rs144644967 | 4:155,458,569 | C/T | — | uncertain significance |
| rs2530704863 | 4:155,458,586 | T/C | — | uncertain significance |
| rs745906950 | 4:155,459,181 | C/T | — | uncertain significance |
| rs780301404 | 4:155,459,183 | G/C | — | uncertain significance |
| rs1297417708 | 4:155,461,747 | C/T | — | uncertain significance |
| rs1272983382 | 4:155,461,789 | G/T | — | uncertain significance |
| rs34672135 | 4:155,461,994 | A/G | — | benign |
| rs772106369 | 4:155,465,601 | T/C | — | uncertain significance |
| rs749966574 | 4:155,465,638 | T/C | — | uncertain significance |
| rs1482713673 | 4:155,465,641 | T/C | — | uncertain significance |
| rs547768914 | 4:155,466,998 | G/A | — | uncertain significance |
| rs746879517 | 4:155,467,013 | C/T | — | uncertain significance |
| rs978552732 | 4:155,467,017 | C/T | — | uncertain significance |
| rs2530722184 | 4:155,467,023 | C/G | — | uncertain significance |
| rs371659236 | 4:155,467,067 | G/C | — | uncertain significance |
| rs1237629794 | 4:155,467,300 | C/T | — | uncertain significance |
| rs368289009 | 4:155,467,315 | C/G | — | uncertain significance |
| rs144741353 | 4:155,467,351 | C/T | — | uncertain significance |
| rs752639959 | 4:155,467,363 | C/G | — | uncertain significance |
| rs1729669495 | 4:155,468,175 | G/A | — | uncertain significance |
| rs373645095 | 4:155,468,886 | T/A | — | uncertain significance |
| rs142924719 | 4:155,468,902 | T/A | — | likely benign |
| rs1375990887 | 4:155,468,925 | T/G | — | uncertain significance |
| rs201963131 | 4:155,468,980 | G/C | — | uncertain significance |
| rs28365897 | 4:155,471,982 | A/C | regulatory region variant | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.