PGAM2
phosphoglycerate mutase 2
Summary
Phosphoglycerate mutase (PGAM) catalyzes the reversible reaction of 3-phosphoglycerate (3-PGA) to 2-phosphoglycerate (2-PGA) in the glycolytic pathway. The PGAM is a dimeric enzyme containing, in different tissues, different proportions of a slow-migrating muscle (MM) isozyme, a fast-migrating brain (BB) isozyme, and a hybrid form (MB). This gene encodes muscle-specific PGAM subunit. Mutations in this gene cause muscle phosphoglycerate mutase eficiency, also known as glycogen storage disease X. [provided by RefSeq, Sep 2009]
Known Variants151 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs76119752 | 7:44,102,305 | C/T | — | benign |
| rs374509693 | 7:44,102,328 | T/C | — | uncertain significance |
| rs752958758 | 7:44,102,370 | G/T | — | uncertain significance |
| rs142209394 | 7:44,102,399 | G/A | — | conflicting classifications of pathogenicity |
| rs779691052 | 7:44,102,405 | C/G | — | likely benign |
| rs369482159 | 7:44,102,406 | C/T | — | uncertain significance |
| rs375024229 | 7:44,102,407 | G/C | — | uncertain significance |
| rs747672660 | 7:44,102,411 | C/T | — | likely benign |
| rs146676508 | 7:44,102,412 | G/A | — | uncertain significance |
| rs140230479 | 7:44,102,418 | T/G | — | conflicting classifications of pathogenicity |
| rs2484199755 | 7:44,102,441 | C/T | — | likely benign |
| rs764304891 | 7:44,102,452 | T/G | — | uncertain significance |
| rs2128795523 | 7:44,102,481 | G/T | — | uncertain significance |
| rs750422335 | 7:44,102,488 | C/T | — | likely pathogenic |
| rs755991460 | 7:44,102,489 | C/T | — | likely benign |
| rs747760221 | 7:44,102,514 | G/A | — | uncertain significance |
| rs367994618 | 7:44,102,532 | A/G | — | likely benign |
| rs372222997 | 7:44,102,536 | C/T | — | uncertain significance |
| rs112718874 | 7:44,102,537 | G/A | — | likely benign |
| rs2484200395 | 7:44,102,546 | A/G | — | likely benign |
| rs6956492 | 7:44,104,219 | A/G | — | benign |
| rs537306409 | 7:44,104,414 | C/T | — | likely benign |
| rs760737158 | 7:44,104,420 | G/A | — | likely benign |
| rs774883572 | 7:44,104,428 | C/A | — | uncertain significance |
| rs201908821 | 7:44,104,431 | C/A | — | uncertain significance |
| rs529416707 | 7:44,104,448 | A/G | — | uncertain significance |
| rs2096156189 | 7:44,104,450 | G/A | — | likely benign |
| rs368258088 | 7:44,104,455 | G/A | — | uncertain significance |
| rs371937909 | 7:44,104,468 | G/A | — | likely benign |
| rs749757183 | 7:44,104,481 | A/G | — | uncertain significance |
| rs540266988 | 7:44,104,488 | G/A | — | pathogenic |
| rs772187619 | 7:44,104,494 | C/T | — | uncertain significance |
| rs555158017 | 7:44,104,495 | G/C | — | likely benign |
| rs370003298 | 7:44,104,511 | A/C | — | uncertain significance |
| rs372452057 | 7:44,104,515 | T/C | — | conflicting classifications of pathogenicity |
| rs758149782 | 7:44,104,521 | C/T | — | uncertain significance |
| rs1309303593 | 7:44,104,522 | G/A | — | likely benign |
| rs150235677 | 7:44,104,525 | C/A | — | uncertain significance |
| rs1201379677 | 7:44,104,537 | G/A | — | likely benign |
| rs138954968 | 7:44,104,541 | C/T | — | uncertain significance |
| rs199977298 | 7:44,104,542 | G/A | — | uncertain significance |
| rs1490964992 | 7:44,104,544 | G/A | — | uncertain significance |
| rs780650903 | 7:44,104,546 | A/G | — | conflicting classifications of pathogenicity |
| rs2096156599 | 7:44,104,563 | T/G | — | uncertain significance |
| rs763664797 | 7:44,104,566 | C/T | — | uncertain significance |
| rs143809043 | 7:44,104,567 | G/A | — | conflicting classifications of pathogenicity |
| rs199869174 | 7:44,104,571 | G/A | — | conflicting classifications of pathogenicity |
| rs117048953 | 7:44,104,584 | C/G | — | uncertain significance |
| rs373213851 | 7:44,104,585 | G/A | — | likely benign |
| rs1316472404 | 7:44,104,595 | C/T | — | uncertain significance |
| rs775439724 | 7:44,104,599 | C/T | — | uncertain significance |
| rs376134077 | 7:44,104,600 | G/A | — | uncertain significance |
| rs144310510 | 7:44,104,604 | C/T | — | uncertain significance |
| rs757821886 | 7:44,104,607 | C/T | — | uncertain significance |
| rs201133395 | 7:44,104,614 | G/A | — | conflicting classifications of pathogenicity |
| rs368040015 | 7:44,104,615 | G/A | — | likely benign |
| rs2128796345 | 7:44,104,616 | G/A | — | likely benign |
| rs2096156795 | 7:44,104,623 | A/C | — | likely benign |
| rs370359405 | 7:44,104,628 | C/T | — | likely benign |
| rs114578410 | 7:44,104,679 | A/G | — | likely benign |
| rs1418555672 | 7:44,104,706 | G/A | — | likely benign |
| rs2128796381 | 7:44,104,709 | G/A | — | uncertain significance |
| rs760205991 | 7:44,104,736 | G/A | — | likely benign |
| rs368147620 | 7:44,104,747 | C/T | — | uncertain significance |
| rs530105632 | 7:44,104,748 | G/A | — | likely benign |
| rs145985559 | 7:44,104,754 | C/T | — | likely benign |
| rs1385458139 | 7:44,104,755 | G/A | — | uncertain significance |
| rs1562661212 | 7:44,104,757 | G/T | — | likely benign |
| rs202087044 | 7:44,104,760 | C/T | — | likely benign |
| rs372435680 | 7:44,104,761 | G/C | — | uncertain significance |
| rs143830182 | 7:44,104,763 | C/T | — | likely benign |
| rs147273213 | 7:44,104,764 | G/A | — | uncertain significance |
| rs768642477 | 7:44,104,766 | G/A | — | likely benign |
| rs936491728 | 7:44,104,770 | T/C | — | uncertain significance |
| rs201067955 | 7:44,104,779 | C/T | — | uncertain significance |
| rs760297833 | 7:44,104,787 | G/A | — | likely benign |
| rs61756062 | 7:44,104,788 | A/C | — | benign |
| rs764676548 | 7:44,104,798 | G/A | — | pathogenic |
| rs749441367 | 7:44,104,799 | C/T | — | likely benign |
| rs112828964 | 7:44,104,805 | C/T | — | benign |
| rs1425067807 | 7:44,104,808 | G/C | — | uncertain significance |
| rs1215292984 | 7:44,104,811 | C/G | — | uncertain significance |
| rs368364851 | 7:44,104,816 | C/T | — | uncertain significance |
| rs150570281 | 7:44,104,819 | C/T | — | conflicting classifications of pathogenicity |
| rs372080857 | 7:44,104,820 | C/T | — | likely benign |
| rs1443019260 | 7:44,104,821 | G/A | — | uncertain significance |
| rs1034635179 | 7:44,104,829 | C/T | — | likely benign |
| rs77938727 | 7:44,104,839 | C/T | missense variant | pathogenic |
| rs139561812 | 7:44,104,841 | T/C | — | conflicting classifications of pathogenicity |
| rs1438105988 | 7:44,104,848 | C/T | — | uncertain significance |
| rs201201589 | 7:44,104,853 | G/A | — | likely benign |
| rs104894034 | 7:44,104,861 | G/A | missense variant | uncertain significance |
| rs104894030 | 7:44,104,863 | T/G | missense variant | pathogenic |
| rs146272559 | 7:44,104,865 | A/G | — | likely benign |
| rs766643060 | 7:44,104,872 | C/T | — | uncertain significance |
| rs371509257 | 7:44,104,873 | G/A | — | uncertain significance |
| rs755125202 | 7:44,104,877 | A/G | — | conflicting classifications of pathogenicity |
| rs1279915046 | 7:44,104,878 | G/C | — | uncertain significance |
| rs748139888 | 7:44,104,882 | G/A | — | uncertain significance |
| rs528467394 | 7:44,104,885 | C/A | — | uncertain significance |
Showing 100 of 151 variants. Use the SNP search for the full list.
Gene information from NCBI Gene. Variant classifications from ClinVar.