STK32B
serine/threonine kinase 32B
Summary
This gene encodes a serine-threonine protein kinase. Serine-threonine kinases transfer phosphate molecules to the oxygen atoms of serine and threonine. A genomic deletion affecting this gene has been associated with Ellis-van Creveld syndrome, an autosomal recessive skeletal dysplasia. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2016]
Known Variants48 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs1741799154 | 4:5,053,603 | C/A | — | uncertain significance |
| rs77843312 | 4:5,053,620 | C/A | — | benign |
| rs1447285 | 4:5,084,925 | T/C | intron variant | — |
| rs6833812 | 4:5,110,140 | G/A | intron variant | — |
| rs778226781 | 4:5,141,635 | A/C | — | uncertain significance |
| rs13128441 | 4:5,162,389 | C/T | intron variant | — |
| rs749831897 | 4:5,170,044 | C/A | — | uncertain significance |
| rs1231261387 | 4:5,170,087 | A/G | — | uncertain significance |
| rs371890370 | 4:5,170,125 | C/T | — | uncertain significance |
| rs73208958 | 4:5,191,068 | A/G | intron variant | — |
| rs35121057 | 4:5,220,559 | C/T | intron variant | — |
| rs2008242 | 4:5,221,538 | G/C | intron variant | — |
| rs78647349 | 4:5,237,153 | G/T | — | — |
| rs565935877 | 4:5,278,013 | C/G | — | — |
| rs191370775 | 4:5,284,895 | G/A | intron variant | — |
| rs1560326152 | 4:5,332,978 | A/G | — | uncertain significance |
| rs61729660 | 4:5,332,986 | G/A | — | benign |
| rs137874810 | 4:5,333,011 | C/T | — | uncertain significance |
| rs2474638135 | 4:5,333,014 | T/C | — | uncertain significance |
| rs114774927 | 4:5,399,173 | T/A | intron variant | — |
| rs796052163 | 4:5,418,586 | A/G | — | likely benign |
| rs778314748 | 4:5,418,602 | C/T | — | uncertain significance |
| rs139253606 | 4:5,418,605 | C/T | — | uncertain significance |
| rs11930847 | 4:5,448,392 | G/A | — | benign |
| rs373843574 | 4:5,448,496 | G/A | — | uncertain significance |
| rs1264318973 | 4:5,458,555 | G/A | — | uncertain significance |
| rs200308383 | 4:5,458,564 | A/G | — | uncertain significance |
| rs148677817 | 4:5,458,582 | A/G | — | uncertain significance |
| rs747160240 | 4:5,458,604 | A/G | — | uncertain significance |
| rs541708015 | 4:5,458,616 | C/T | — | uncertain significance |
| rs146714972 | 4:5,461,848 | G/A | — | uncertain significance |
| rs369572115 | 4:5,461,857 | G/A | — | uncertain significance |
| rs775048920 | 4:5,461,860 | T/C | — | uncertain significance |
| rs1716923316 | 4:5,461,902 | A/G | — | uncertain significance |
| rs144030427 | 4:5,461,914 | G/A | — | uncertain significance |
| rs150966427 | 4:5,461,915 | C/T | — | uncertain significance |
| rs545552601 | 4:5,461,932 | C/G | — | uncertain significance |
| rs769949140 | 4:5,468,490 | C/T | — | uncertain significance |
| rs190741865 | 4:5,468,508 | A/C | — | uncertain significance |
| rs574395382 | 4:5,468,524 | A/G | — | uncertain significance |
| rs762211636 | 4:5,468,530 | C/A | — | uncertain significance |
| rs757973732 | 4:5,468,558 | G/A | — | likely benign |
| rs139218892 | 4:5,469,781 | A/G | — | uncertain significance |
| rs61999284 | 4:5,500,706 | T/C | — | benign |
| rs141748481 | 4:5,500,756 | C/G | — | uncertain significance |
| rs141820982 | 4:5,500,762 | C/G | — | uncertain significance |
| rs750565683 | 4:5,500,769 | A/C | — | uncertain significance |
| rs375434120 | 4:5,500,791 | C/T | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.