NPTX1
neuronal pentraxin 1
Summary
NPTX1 is a member of the neuronal pentraxin gene family. Neuronal pentraxin 1 is similar to the rat NP1 gene which encodes a binding protein for the snake venom toxin taipoxin. Human NPTX1 mRNA is exclusively localized to the nervous system. [provided by RefSeq, Jul 2008]
Known Variants35 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs754698619 | 17:78,444,626 | C/T | — | uncertain significance |
| rs2083837756 | 17:78,444,669 | C/T | — | uncertain significance |
| rs752243454 | 17:78,444,690 | C/T | — | uncertain significance |
| rs1466750124 | 17:78,444,747 | C/T | — | pathogenic |
| rs375690569 | 17:78,444,761 | C/T | — | uncertain significance |
| rs2509777083 | 17:78,444,803 | T/C | — | likely pathogenic |
| rs377120879 | 17:78,445,555 | C/T | — | uncertain significance |
| rs34937624 | 17:78,445,568 | G/A | — | benign |
| rs2509777500 | 17:78,445,629 | T/C | — | pathogenic |
| rs140465326 | 17:78,447,050 | C/G | — | uncertain significance |
| rs2083853960 | 17:78,447,211 | T/C | — | uncertain significance |
| rs200209613 | 17:78,447,219 | G/T | — | uncertain significance |
| rs199995922 | 17:78,447,229 | C/T | — | uncertain significance |
| rs1384003832 | 17:78,449,355 | G/T | — | uncertain significance |
| rs772272561 | 17:78,449,356 | T/A | — | likely benign |
| rs143382901 | 17:78,449,394 | C/A | — | uncertain significance |
| rs2509779738 | 17:78,449,424 | C/A | — | likely pathogenic |
| rs2509780141 | 17:78,449,819 | C/A | — | likely pathogenic |
| rs373040407 | 17:78,449,822 | G/C | — | uncertain significance |
| rs1232347983 | 17:78,449,851 | T/G | — | uncertain significance |
| rs2509780171 | 17:78,449,855 | C/G | — | uncertain significance |
| rs201541109 | 17:78,449,938 | C/T | — | benign |
| rs144443274 | 17:78,449,948 | C/T | missense variant | — |
| rs780891833 | 17:78,449,958 | G/C | — | likely benign |
| rs2509780419 | 17:78,450,065 | A/T | — | uncertain significance |
| rs2509780438 | 17:78,450,077 | C/T | — | likely benign |
| rs201884300 | 17:78,450,174 | A/T | — | uncertain significance |
| rs2509780581 | 17:78,450,186 | C/G | — | uncertain significance |
| rs2509780585 | 17:78,450,188 | G/C | — | uncertain significance |
| rs755804269 | 17:78,450,189 | C/T | — | uncertain significance |
| rs1015982621 | 17:78,450,198 | G/A | — | uncertain significance |
| rs2509780632 | 17:78,450,225 | G/T | — | uncertain significance |
| rs2509780644 | 17:78,450,233 | C/G | — | uncertain significance |
| rs1158112521 | 17:78,450,236 | C/G | — | uncertain significance |
| rs542777076 | 17:78,450,252 | C/A | — | likely benign |
Gene information from NCBI Gene. Variant classifications from ClinVar.