PNMA5
PNMA family member 5
Summary
This gene encodes a member of the paraneoplastic Ma antigen protein family. These proteins have been implicated in the development of paraneoplastic disorders resulting from an immune response directed against them. Paraneoplastic disorders are the result of an abnormal immune response to a tumor. Multiple alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Oct 2011]
Known Variants14 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs150433338 | X:152,158,818 | T/C | — | uncertain significance |
| rs181676481 | X:152,158,831 | C/T | — | uncertain significance |
| rs1480856075 | X:152,158,852 | A/C | — | uncertain significance |
| rs201866229 | X:152,158,891 | T/A | — | benign |
| rs988296118 | X:152,158,969 | G/A | — | uncertain significance |
| rs782111291 | X:152,158,990 | C/T | — | uncertain significance |
| rs3810654 | X:152,159,098 | G/A | — | uncertain significance |
| rs149432346 | X:152,159,202 | C/G | — | uncertain significance |
| rs144825466 | X:152,159,204 | C/A | — | benign |
| rs141321283 | X:152,159,243 | G/A | — | benign |
| rs782556340 | X:152,159,247 | G/A | — | uncertain significance |
| rs16996773 | X:152,159,456 | G/A | — | benign |
| rs781906071 | X:152,160,091 | T/C | — | likely benign |
| rs112121671 | X:152,161,657 | A/C | upstream gene variant | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.