CAPS
calcyphosine
Summary
This gene encodes a calcium-binding protein, which may play a role in the regulation of ion transport. A similar protein was first described as a potentially important regulatory protein in the dog thyroid and was termed as R2D5 antigen in rabbit. Alternative splicing of this gene generates two transcript variants. [provided by RefSeq, Jul 2008]
Known Variants31 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs561540684 | 19:5,914,078 | G/A | — | likely benign |
| rs61743888 | 19:5,914,138 | G/A | — | likely benign |
| rs1453760777 | 19:5,914,427 | G/A | — | uncertain significance |
| rs139158732 | 19:5,914,467 | C/A | — | uncertain significance |
| rs143117009 | 19:5,914,470 | G/A | — | benign |
| rs747526532 | 19:5,914,472 | G/C | — | uncertain significance |
| rs781604890 | 19:5,914,479 | C/T | — | uncertain significance |
| rs144239364 | 19:5,914,591 | A/G | — | uncertain significance |
| rs749944148 | 19:5,914,617 | G/A | — | uncertain significance |
| rs367676597 | 19:5,914,630 | G/A | — | likely benign |
| rs199930097 | 19:5,914,650 | G/A | — | benign |
| rs779224461 | 19:5,914,698 | G/A | — | uncertain significance |
| rs550872985 | 19:5,914,701 | C/T | — | uncertain significance |
| rs2512886430 | 19:5,914,708 | G/A | — | uncertain significance |
| rs371617212 | 19:5,914,717 | C/T | — | uncertain significance |
| rs145809391 | 19:5,914,724 | T/A | — | uncertain significance |
| rs778058706 | 19:5,914,749 | C/T | — | uncertain significance |
| rs61741511 | 19:5,914,951 | C/A | — | benign |
| rs768276521 | 19:5,914,969 | C/G | — | uncertain significance |
| rs2057719591 | 19:5,914,982 | T/A | — | uncertain significance |
| rs201590538 | 19:5,915,009 | G/A | — | uncertain significance |
| rs138364948 | 19:5,915,030 | C/T | — | uncertain significance |
| rs540490939 | 19:5,915,044 | C/T | — | uncertain significance |
| rs755619424 | 19:5,915,080 | C/A | — | uncertain significance |
| rs771394159 | 19:5,915,083 | A/C | — | uncertain significance |
| rs1285378913 | 19:5,915,104 | G/A | — | likely benign |
| rs148547566 | 19:5,915,113 | C/T | — | uncertain significance |
| rs534233076 | 19:5,915,117 | G/A | — | uncertain significance |
| rs761339517 | 19:5,915,287 | C/T | — | uncertain significance |
| rs147363394 | 19:5,915,300 | C/A | missense variant | — |
| rs543355411 | 19:5,915,341 | C/T | — | likely benign |
Gene information from NCBI Gene. Variant classifications from ClinVar.