AMPH
amphiphysin
Summary
This gene encodes a protein associated with the cytoplasmic surface of synaptic vesicles. A subset of patients with stiff-man syndrome who were also affected by breast cancer are positive for autoantibodies against this protein. Alternate splicing of this gene results in two transcript variants encoding different isoforms. Additional splice variants have been described, but their full length sequences have not been determined. A pseudogene of this gene is found on chromosome 11.[provided by RefSeq, Nov 2010]
Known Variants42 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs138437054 | 7:38,431,443 | T/C | — | uncertain significance |
| rs142938499 | 7:38,431,470 | G/A | — | likely benign |
| rs929702641 | 7:38,431,517 | C/G | — | likely benign |
| rs747675365 | 7:38,431,525 | T/A | — | uncertain significance |
| rs372537853 | 7:38,431,555 | C/T | — | uncertain significance |
| rs1257054366 | 7:38,431,591 | C/G | — | uncertain significance |
| rs757857975 | 7:38,431,602 | G/A | — | uncertain significance |
| rs2484011617 | 7:38,433,633 | G/C | — | uncertain significance |
| rs778203010 | 7:38,433,668 | T/G | — | uncertain significance |
| rs756707743 | 7:38,433,731 | C/T | — | likely benign |
| rs73348825 | 7:38,433,763 | C/A | — | benign |
| rs771596953 | 7:38,457,453 | C/T | — | likely benign |
| rs201059599 | 7:38,457,454 | G/A | — | uncertain significance |
| rs1483153935 | 7:38,457,457 | T/C | — | uncertain significance |
| rs373071104 | 7:38,457,481 | C/T | — | uncertain significance |
| rs1444808020 | 7:38,466,561 | A/G | — | uncertain significance |
| rs371065137 | 7:38,466,576 | C/A | — | uncertain significance |
| rs749091222 | 7:38,471,780 | G/A | — | likely benign |
| rs200697979 | 7:38,471,790 | G/A | — | likely benign |
| rs17171345 | 7:38,475,878 | C/G | — | benign |
| rs762186644 | 7:38,475,922 | C/T | — | uncertain significance |
| rs201791183 | 7:38,500,873 | A/G | — | likely benign |
| rs1584121418 | 7:38,500,886 | G/T | — | likely benign |
| rs755704877 | 7:38,500,987 | G/T | — | uncertain significance |
| rs368302578 | 7:38,502,604 | C/T | — | uncertain significance |
| rs149933378 | 7:38,502,611 | C/T | — | likely benign |
| rs779118225 | 7:38,502,612 | G/A | — | uncertain significance |
| rs540619394 | 7:38,502,651 | G/A | — | uncertain significance |
| rs140255211 | 7:38,502,683 | T/C | — | likely benign |
| rs777511764 | 7:38,502,697 | G/T | — | uncertain significance |
| rs867699717 | 7:38,505,101 | C/A | — | uncertain significance |
| rs756052300 | 7:38,505,107 | G/T | — | uncertain significance |
| rs2484368571 | 7:38,505,112 | C/T | — | uncertain significance |
| rs200247377 | 7:38,505,814 | C/T | — | uncertain significance |
| rs199555769 | 7:38,514,989 | T/C | — | uncertain significance |
| rs2484426334 | 7:38,515,000 | T/C | — | uncertain significance |
| rs200060107 | 7:38,534,058 | C/T | — | uncertain significance |
| rs147234401 | 7:38,574,539 | G/A | — | likely benign |
| rs73692776 | 7:38,605,602 | C/T | intron variant | — |
| rs2484055100 | 7:38,670,895 | G/C | — | likely benign |
| rs749611316 | 7:38,670,924 | C/T | — | uncertain significance |
| rs1453668474 | 7:38,670,930 | T/C | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.