CDK19
cyclin dependent kinase 19
Summary
This gene encodes a protein that is one of the components of the Mediator co-activator complex. The Mediator complex is a multi-protein complex required for transcriptional activation by DNA binding transcription factors of genes transcribed by RNA polymerase II. The protein encoded by this gene is similar to cyclin-dependent kinase 8 which can also be a component of the Mediator complex. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Jul 2014]
Known Variants44 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs776325246 | 6:110,935,745 | C/T | — | uncertain significance |
| rs2535238995 | 6:110,935,761 | A/T | — | uncertain significance |
| rs928696407 | 6:110,935,764 | G/T | — | uncertain significance |
| rs1440180529 | 6:110,935,821 | G/C | — | uncertain significance |
| rs764256188 | 6:110,935,836 | C/T | — | uncertain significance |
| rs376573708 | 6:110,942,378 | G/T | — | uncertain significance |
| rs148540500 | 6:110,942,427 | G/A | — | likely benign |
| rs1340287712 | 6:110,942,435 | C/T | — | uncertain significance |
| rs2535287974 | 6:110,942,437 | A/G | — | likely benign |
| rs2535288282 | 6:110,942,450 | C/A | — | uncertain significance |
| rs1309504394 | 6:110,942,466 | G/C | — | uncertain significance |
| rs546919397 | 6:110,942,494 | G/T | — | uncertain significance |
| rs55914301 | 6:110,942,500 | G/A | — | uncertain significance |
| rs1252871484 | 6:110,942,543 | G/C | — | uncertain significance |
| rs1251968288 | 6:110,942,568 | C/A | — | uncertain significance |
| rs764689015 | 6:110,943,360 | G/A | — | likely benign |
| rs1778804193 | 6:110,944,097 | T/C | — | uncertain significance |
| rs754862400 | 6:110,944,108 | T/C | — | uncertain significance |
| rs777727767 | 6:110,944,537 | T/C | — | uncertain significance |
| rs2114669112 | 6:110,948,231 | A/G | — | uncertain significance |
| rs1779472995 | 6:110,953,281 | G/A | — | likely pathogenic |
| rs1779473213 | 6:110,953,285 | C/G | — | uncertain significance |
| rs1779473436 | 6:110,953,290 | A/G | — | likely pathogenic |
| rs1779473650 | 6:110,953,293 | T/C | — | conflicting classifications of pathogenicity |
| rs2114707169 | 6:110,953,347 | T/C | — | uncertain significance |
| rs1032990965 | 6:110,959,868 | C/T | — | likely benign |
| rs2535413964 | 6:110,959,869 | C/A | — | uncertain significance |
| rs2114758446 | 6:110,959,912 | A/G | — | uncertain significance |
| rs2535590574 | 6:110,988,683 | T/A | — | likely benign |
| rs2535590742 | 6:110,988,707 | T/G | — | uncertain significance |
| rs753328500 | 6:110,991,626 | A/G | — | likely benign |
| rs1334230328 | 6:110,991,701 | T/C | — | uncertain significance |
| rs2535610881 | 6:110,991,718 | A/G | — | likely benign |
| rs9374194 | 6:111,000,185 | T/G | — | — |
| rs2691192 | 6:111,001,076 | A/G | — | — |
| rs1778062825 | 6:111,067,392 | C/G | — | uncertain significance |
| rs767292260 | 6:111,067,423 | A/G | — | likely benign |
| rs1089646 | 6:111,107,921 | A/G | intron variant | — |
| rs1783517622 | 6:111,136,245 | T/C | — | conflicting classifications of pathogenicity |
| rs1236246272 | 6:111,136,246 | A/G | — | pathogenic |
| rs1783518295 | 6:111,136,248 | G/T | — | pathogenic |
| rs1783518890 | 6:111,136,257 | C/G | — | likely pathogenic |
| rs1783519120 | 6:111,136,258 | C/G | — | pathogenic |
| rs2536279958 | 6:111,136,294 | C/T | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.