POMGNT1
protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)
Summary
This gene encodes a type II transmembrane protein that resides in the Golgi apparatus. It participates in O-mannosyl glycosylation and is specific for alpha linked terminal mannose. Mutations in this gene may be associated with muscle-eye-brain disease and several congenital muscular dystrophies. Alternatively spliced transcript variants that encode different protein isoforms have been described. [provided by RefSeq, Feb 2014]
Known Variants1,009 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs570689044 | 1:46,654,391 | T/C | — | likely benign |
| rs769094628 | 1:46,654,411 | G/A | — | uncertain significance |
| rs377163612 | 1:46,654,440 | G/A | — | uncertain significance |
| rs764840485 | 1:46,654,442 | C/T | — | uncertain significance |
| rs866924336 | 1:46,654,443 | C/T | — | uncertain significance |
| rs1657513729 | 1:46,654,485 | G/A | — | uncertain significance |
| rs148903585 | 1:46,654,491 | G/A | — | conflicting classifications of pathogenicity |
| rs746679629 | 1:46,654,595 | C/T | — | likely benign |
| rs1426731829 | 1:46,654,640 | T/C | — | likely benign |
| rs2525325343 | 1:46,654,647 | C/T | — | uncertain significance |
| rs181362801 | 1:46,654,721 | C/T | — | conflicting classifications of pathogenicity |
| rs1657534329 | 1:46,654,735 | C/T | — | uncertain significance |
| rs200540049 | 1:46,654,908 | C/T | — | conflicting classifications of pathogenicity |
| rs1188540095 | 1:46,654,940 | T/A | — | uncertain significance |
| rs1457135444 | 1:46,654,945 | T/G | — | likely benign |
| rs377760450 | 1:46,654,946 | G/A | — | uncertain significance |
| rs1245110445 | 1:46,654,948 | C/T | — | likely benign |
| rs766290773 | 1:46,654,950 | G/A | — | uncertain significance |
| rs1396164428 | 1:46,654,955 | G/A | — | uncertain significance |
| rs753937962 | 1:46,654,964 | G/A | — | uncertain significance |
| rs2148161592 | 1:46,654,966 | G/A | — | likely benign |
| rs2148161602 | 1:46,654,969 | T/C | — | likely benign |
| rs1210887374 | 1:46,654,972 | C/T | — | likely benign |
| rs2148161681 | 1:46,654,975 | C/G | — | uncertain significance |
| rs2148161695 | 1:46,654,977 | C/T | — | uncertain significance |
| rs144068158 | 1:46,654,978 | C/A | — | uncertain significance |
| rs752942416 | 1:46,654,980 | T/G | — | uncertain significance |
| rs2148161781 | 1:46,654,986 | G/C | — | uncertain significance |
| rs1442072528 | 1:46,654,989 | G/A | — | uncertain significance |
| rs2148161838 | 1:46,654,990 | C/T | — | likely benign |
| rs778115320 | 1:46,654,992 | C/G | — | uncertain significance |
| rs1657554971 | 1:46,654,993 | C/T | — | likely benign |
| rs2148161905 | 1:46,654,995 | G/A | — | likely benign |
| rs2148161920 | 1:46,654,996 | G/A | — | likely benign |
| rs199534074 | 1:46,654,998 | A/C | — | uncertain significance |
| rs2525331892 | 1:46,654,999 | A/T | — | likely benign |
| rs757749808 | 1:46,655,001 | T/C | — | uncertain significance |
| rs886043958 | 1:46,655,002 | T/G | — | conflicting classifications of pathogenicity |
| rs748799436 | 1:46,655,006 | G/A | — | uncertain significance |
| rs768080962 | 1:46,655,008 | G/A | — | likely benign |
| rs778579837 | 1:46,655,011 | T/A | — | likely benign |
| rs2148162135 | 1:46,655,012 | G/A | — | uncertain significance |
| rs747815387 | 1:46,655,014 | G/A | — | uncertain significance |
| rs1467007123 | 1:46,655,015 | G/A | — | uncertain significance |
| rs771922809 | 1:46,655,019 | G/A | — | uncertain significance |
| rs1285505849 | 1:46,655,027 | A/T | — | uncertain significance |
| rs1657559085 | 1:46,655,028 | C/T | — | uncertain significance |
| rs2148162311 | 1:46,655,033 | G/A | — | likely benign |
| rs1392732237 | 1:46,655,034 | G/A | — | likely benign |
| rs773132049 | 1:46,655,039 | T/G | — | likely benign |
| rs1331734071 | 1:46,655,040 | A/T | — | likely benign |
| rs1431227875 | 1:46,655,042 | T/G | — | likely benign |
| rs1571645725 | 1:46,655,047 | G/C | — | likely benign |
| rs1226414977 | 1:46,655,048 | A/G | — | benign |
| rs200416465 | 1:46,655,049 | A/T | — | likely benign |
| rs113174528 | 1:46,655,100 | T/C | — | benign |
| rs1407622693 | 1:46,655,111 | G/A | — | likely benign |
| rs2525334172 | 1:46,655,119 | G/A | — | likely benign |
| rs754452122 | 1:46,655,121 | G/C | — | likely benign |
| rs2525334632 | 1:46,655,135 | G/A | — | likely benign |
| rs747723242 | 1:46,655,136 | G/C | — | conflicting classifications of pathogenicity |
| rs1203309638 | 1:46,655,137 | G/A | — | uncertain significance |
| rs2525334792 | 1:46,655,138 | G/C | — | likely benign |
| rs200143169 | 1:46,655,145 | G/A | — | uncertain significance |
| rs1657570765 | 1:46,655,147 | G/A | — | conflicting classifications of pathogenicity |
| rs199723646 | 1:46,655,149 | C/T | — | uncertain significance |
| rs1168602477 | 1:46,655,153 | C/G | — | likely benign |
| rs377170894 | 1:46,655,160 | A/G | — | uncertain significance |
| rs2148163363 | 1:46,655,162 | G/A | — | likely benign |
| rs374401585 | 1:46,655,170 | T/A | — | uncertain significance |
| rs1553162663 | 1:46,655,173 | T/A | — | pathogenic |
| rs775534917 | 1:46,655,178 | C/T | — | uncertain significance |
| rs763071717 | 1:46,655,179 | G/A | — | uncertain significance |
| rs2148163569 | 1:46,655,181 | A/C | — | uncertain significance |
| rs1298358291 | 1:46,655,183 | C/T | — | likely benign |
| rs1364587778 | 1:46,655,184 | A/T | — | pathogenic |
| rs1657576580 | 1:46,655,186 | T/A | — | uncertain significance |
| rs764271873 | 1:46,655,187 | C/T | — | uncertain significance |
| rs2525336107 | 1:46,655,190 | C/T | — | pathogenic |
| rs1352149832 | 1:46,655,193 | A/G | — | conflicting classifications of pathogenicity |
| rs367848204 | 1:46,655,194 | G/A | — | conflicting classifications of pathogenicity |
| rs1657578489 | 1:46,655,197 | C/A | — | uncertain significance |
| rs371741722 | 1:46,655,199 | C/T | — | uncertain significance |
| rs145736350 | 1:46,655,200 | G/A | — | uncertain significance |
| rs886044567 | 1:46,655,212 | G/T | — | likely pathogenic |
| rs2525336689 | 1:46,655,213 | C/T | — | likely benign |
| rs372423310 | 1:46,655,216 | A/G | — | likely benign |
| rs1657582776 | 1:46,655,219 | C/T | — | likely benign |
| rs752229468 | 1:46,655,221 | G/A | — | conflicting classifications of pathogenicity |
| rs2525337006 | 1:46,655,223 | T/C | — | uncertain significance |
| rs376973640 | 1:46,655,237 | G/T | — | pathogenic |
| rs1457667479 | 1:46,655,240 | C/T | — | likely pathogenic |
| rs1657584945 | 1:46,655,243 | G/A | — | likely benign |
| rs757014219 | 1:46,655,244 | T/A | — | likely benign |
| rs202028128 | 1:46,655,245 | G/A | — | conflicting classifications of pathogenicity |
| rs907703268 | 1:46,655,247 | G/C | — | likely benign |
| rs961913683 | 1:46,655,248 | G/A | — | conflicting classifications of pathogenicity |
| rs975980948 | 1:46,655,249 | G/A | — | likely benign |
| rs1571646656 | 1:46,655,250 | T/C | — | likely benign |
| rs1227978235 | 1:46,655,251 | G/T | — | likely benign |
Showing 100 of 1,009 variants. Use the SNP search for the full list.
Gene information from NCBI Gene. Variant classifications from ClinVar.