VMA12
vacuolar ATPase assembly factor VMA12
Summary
The protein encoded by this gene has been observed to localize to the endoplasmic reticulum (ER)-Golgi intermediate compartment (ERGIC) and coat protein complex I (COPI) in some human cells. The encoded protein shares some homology with the yeast protein Vma12. Defects in this gene are a cause of congenital disorder of glycosylation, type IIp. [provided by RefSeq, Mar 2016]
Known Variants59 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs11555978 | 17:26,684,368 | G/A | — | likely benign |
| rs4795429 | 17:26,684,449 | G/C | — | benign |
| rs147283137 | 17:26,684,709 | C/T | — | uncertain significance |
| rs782671102 | 17:26,684,712 | G/A | — | uncertain significance |
| rs781939580 | 17:26,684,729 | G/A | — | conflicting classifications of pathogenicity |
| rs148319411 | 17:26,684,737 | T/C | — | benign |
| rs373775018 | 17:26,684,767 | G/T | — | uncertain significance |
| rs782244200 | 17:26,684,793 | C/T | — | uncertain significance |
| rs141432903 | 17:26,684,803 | C/T | — | uncertain significance |
| rs181902708 | 17:26,684,831 | T/C | — | likely benign |
| rs1405446665 | 17:26,684,836 | C/G | — | uncertain significance |
| rs782119739 | 17:26,684,844 | C/T | — | uncertain significance |
| rs116914442 | 17:26,684,849 | A/G | — | likely benign |
| rs782643650 | 17:26,684,868 | C/T | — | uncertain significance |
| rs781823684 | 17:26,684,870 | C/T | — | likely benign |
| rs139239352 | 17:26,684,905 | G/A | — | likely pathogenic |
| rs373885630 | 17:26,684,914 | A/C | — | likely benign |
| rs782767581 | 17:26,684,920 | C/T | — | likely benign |
| rs782430196 | 17:26,685,942 | C/T | — | uncertain significance |
| rs367645620 | 17:26,685,957 | A/G | — | uncertain significance |
| rs35276012 | 17:26,685,983 | T/C | — | likely benign |
| rs200616117 | 17:26,685,995 | G/A | — | uncertain significance |
| rs201975015 | 17:26,686,011 | G/A | — | uncertain significance |
| rs782428477 | 17:26,686,387 | A/G | — | uncertain significance |
| rs782344059 | 17:26,686,394 | A/C | — | uncertain significance |
| rs144960624 | 17:26,686,401 | C/T | — | uncertain significance |
| rs782046313 | 17:26,686,402 | G/A | — | uncertain significance |
| rs11538927 | 17:26,686,416 | G/A | — | benign |
| rs1555581737 | 17:26,686,435 | C/T | — | likely benign |
| rs17802736 | 17:26,686,445 | G/A | — | benign |
| rs16964226 | 17:26,686,552 | G/A | — | likely benign |
| rs184878037 | 17:26,687,533 | T/A | — | benign |
| rs1555581908 | 17:26,687,535 | C/T | — | likely benign |
| rs1908290601 | 17:26,687,542 | T/C | — | likely benign |
| rs1036832204 | 17:26,687,552 | G/C | — | uncertain significance |
| rs782304183 | 17:26,687,590 | G/A | — | likely benign |
| rs375848236 | 17:26,687,747 | C/T | — | benign |
| rs782792081 | 17:26,687,752 | C/G | — | likely benign |
| rs377579107 | 17:26,687,767 | T/C | — | uncertain significance |
| rs188096554 | 17:26,687,789 | C/T | — | likely benign |
| rs1386945215 | 17:26,687,794 | A/G | — | uncertain significance |
| rs2508131155 | 17:26,687,806 | C/T | — | uncertain significance |
| rs12572 | 17:26,687,811 | G/A | — | benign |
| rs36106147 | 17:26,687,835 | C/G | — | benign |
| rs2508131591 | 17:26,687,865 | G/T | — | uncertain significance |
| rs1286340977 | 17:26,687,866 | C/T | — | uncertain significance |
| rs200377522 | 17:26,687,869 | C/T | — | uncertain significance |
| rs77187048 | 17:26,688,065 | C/T | — | likely benign |
| rs147116578 | 17:26,688,179 | C/T | — | uncertain significance |
| rs782538407 | 17:26,688,187 | A/G | — | likely benign |
| rs782666793 | 17:26,688,189 | C/G | — | uncertain significance |
| rs761167016 | 17:26,688,194 | T/C | — | likely benign |
| rs1481321479 | 17:26,688,216 | G/A | — | uncertain significance |
| rs782002175 | 17:26,688,224 | G/A | — | uncertain significance |
| rs549520061 | 17:26,688,233 | G/A | — | uncertain significance |
| rs1555582124 | 17:26,688,239 | G/T | — | uncertain significance |
| rs782066320 | 17:26,688,242 | C/G | — | uncertain significance |
| rs147742797 | 17:26,688,243 | G/A | — | uncertain significance |
| rs148292145 | 17:26,688,481 | T/C | — | likely benign |
Gene information from NCBI Gene. Variant classifications from ClinVar.