AGTPBP1
ATP/GTP binding carboxypeptidase 1
Summary
NNA1 is a zinc carboxypeptidase that contains nuclear localization signals and an ATP/GTP-binding motif that was initially cloned from regenerating spinal cord neurons of the mouse.[supplied by OMIM, Jul 2002]
Known Variants86 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs2537409914 | 9:88,162,035 | A/C | — | uncertain significance |
| rs374016566 | 9:88,162,065 | C/T | — | uncertain significance |
| rs138412470 | 9:88,162,066 | T/G | — | likely benign |
| rs747824329 | 9:88,162,116 | T/C | — | uncertain significance |
| rs775944173 | 9:88,162,178 | T/C | — | uncertain significance |
| rs60986482 | 9:88,190,348 | T/C | — | likely benign |
| rs140566700 | 9:88,190,358 | C/G | — | uncertain significance |
| rs767296418 | 9:88,190,378 | C/T | — | uncertain significance |
| rs2537632223 | 9:88,193,840 | A/C | — | uncertain significance |
| rs1564026859 | 9:88,193,921 | G/A | — | uncertain significance |
| rs751999738 | 9:88,193,925 | T/C | — | likely benign |
| rs147659568 | 9:88,193,941 | T/C | — | uncertain significance |
| rs148724007 | 9:88,193,971 | C/A | — | uncertain significance |
| rs151285662 | 9:88,194,001 | T/C | — | uncertain significance |
| rs2537697043 | 9:88,201,766 | C/T | — | uncertain significance |
| rs1564034077 | 9:88,201,810 | T/A | — | pathogenic |
| rs2537698373 | 9:88,201,871 | G/A | — | uncertain significance |
| rs1828746127 | 9:88,203,273 | C/T | — | uncertain significance |
| rs943824159 | 9:88,203,274 | G/A | — | pathogenic |
| rs2537710137 | 9:88,203,283 | G/A | — | likely pathogenic |
| rs376580319 | 9:88,203,292 | G/A | — | uncertain significance |
| rs1564035967 | 9:88,203,364 | G/A | — | conflicting classifications of pathogenicity |
| rs2537710909 | 9:88,203,378 | A/T | — | uncertain significance |
| rs1564041582 | 9:88,207,477 | G/A | — | pathogenic |
| rs760300826 | 9:88,207,491 | G/A | — | pathogenic |
| rs765727480 | 9:88,207,527 | T/C | — | uncertain significance |
| rs1829045299 | 9:88,207,562 | A/T | — | likely pathogenic |
| rs201862545 | 9:88,207,610 | G/T | — | uncertain significance |
| rs2537781041 | 9:88,211,278 | T/C | — | uncertain significance |
| rs779664281 | 9:88,211,304 | C/A | — | likely pathogenic |
| rs1829302172 | 9:88,211,305 | G/A | — | uncertain significance |
| rs1564046794 | 9:88,211,338 | G/A | — | likely pathogenic |
| rs200123422 | 9:88,211,341 | C/T | — | uncertain significance |
| rs1554699491 | 9:88,211,365 | C/A | — | pathogenic |
| rs369611250 | 9:88,233,957 | C/T | — | uncertain significance |
| rs928290807 | 9:88,233,981 | A/C | — | uncertain significance |
| rs1564069651 | 9:88,234,038 | T/C | — | likely pathogenic |
| rs76790177 | 9:88,234,120 | A/C | — | benign |
| rs1564069807 | 9:88,234,128 | A/C | — | likely pathogenic |
| rs1352653820 | 9:88,234,152 | G/A | — | uncertain significance |
| rs373880345 | 9:88,234,169 | A/T | — | uncertain significance |
| rs1564071824 | 9:88,236,136 | A/C | — | pathogenic |
| rs760554628 | 9:88,236,144 | C/T | — | uncertain significance |
| rs2537992540 | 9:88,236,202 | T/C | — | likely pathogenic |
| rs376158351 | 9:88,247,645 | G/A | — | likely benign |
| rs147183301 | 9:88,247,685 | T/C | — | uncertain significance |
| rs2538089855 | 9:88,247,712 | G/C | — | uncertain significance |
| rs1831765473 | 9:88,247,715 | T/A | — | uncertain significance |
| rs767268412 | 9:88,247,746 | C/T | — | uncertain significance |
| rs1322058489 | 9:88,247,949 | G/A | — | uncertain significance |
| rs7341749 | 9:88,247,985 | C/T | — | uncertain significance |
| rs747285262 | 9:88,247,986 | G/A | — | likely pathogenic |
| rs369981668 | 9:88,248,034 | T/C | — | uncertain significance |
| rs778536480 | 9:88,248,114 | G/A | — | uncertain significance |
| rs529759209 | 9:88,248,213 | G/A | — | uncertain significance |
| rs778036367 | 9:88,248,219 | A/G | — | uncertain significance |
| rs758205103 | 9:88,248,228 | G/C | — | uncertain significance |
| rs1256720597 | 9:88,248,232 | C/T | — | uncertain significance |
| rs144890878 | 9:88,248,239 | T/C | — | benign |
| rs1183456608 | 9:88,257,804 | G/A | — | pathogenic |
| rs2538182638 | 9:88,257,843 | T/C | — | uncertain significance |
| rs201841879 | 9:88,261,325 | C/T | — | uncertain significance |
| rs375794059 | 9:88,270,068 | T/G | — | uncertain significance |
| rs201333759 | 9:88,270,218 | C/T | — | likely benign |
| rs202080820 | 9:88,270,227 | C/T | — | likely benign |
| rs2538292726 | 9:88,270,236 | C/T | — | pathogenic |
| rs1833599643 | 9:88,272,447 | C/A | — | uncertain significance |
| rs201090962 | 9:88,272,474 | C/T | — | uncertain significance |
| rs142715147 | 9:88,284,392 | T/C | — | benign |
| rs2538444502 | 9:88,287,523 | C/A | — | uncertain significance |
| rs558511471 | 9:88,287,576 | C/T | — | uncertain significance |
| rs1248045587 | 9:88,287,588 | A/G | — | uncertain significance |
| rs1199558625 | 9:88,287,590 | T/G | — | uncertain significance |
| rs1164094345 | 9:88,287,599 | G/T | — | uncertain significance |
| rs1261208737 | 9:88,292,377 | G/T | — | not provided |
| rs140604913 | 9:88,292,390 | C/T | — | likely benign |
| rs375826886 | 9:88,292,393 | T/C | — | uncertain significance |
| rs61447666 | 9:88,292,394 | T/C | — | benign |
| rs372728621 | 9:88,292,483 | C/T | — | uncertain significance |
| rs2538497475 | 9:88,293,264 | T/C | — | uncertain significance |
| rs200184234 | 9:88,307,655 | C/T | — | uncertain significance |
| rs939855806 | 9:88,307,723 | G/A | — | uncertain significance |
| rs1287669340 | 9:88,356,689 | C/T | — | likely pathogenic |
| rs10114347 | 9:88,356,743 | A/C | — | uncertain significance |
| rs762840862 | 9:88,356,862 | C/T | — | uncertain significance |
| rs73649983 | 9:88,415,760 | C/T | intergenic variant | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.