KIRREL1
kirre like nephrin family adhesion molecule 1
Summary
NEPH1 is a member of the nephrin-like protein family, which includes NEPH2 (MIM 607761) and NEPH3 (MIM 607762). The cytoplasmic domains of these proteins interact with the C terminus of podocin (NPHS2; MIM 604766), and the genes are expressed in kidney podocytes, cells involved in ensuring size- and charge-selective ultrafiltration (Sellin et al., 2003 [PubMed 12424224]).[supplied by OMIM, Mar 2008]
Known Variants89 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs186468124 | 1:157,962,626 | G/A | regulatory region variant | — |
| rs1473739132 | 1:157,963,470 | C/G | — | uncertain significance |
| rs943366413 | 1:157,963,491 | C/G | — | uncertain significance |
| rs2526412597 | 1:157,963,495 | C/A | — | uncertain significance |
| rs188508790 | 1:157,969,803 | G/A | intron variant | — |
| rs35271630 | 1:157,986,865 | A/G | regulatory region variant | — |
| rs75515117 | 1:157,995,501 | G/A | intron variant | — |
| rs193300948 | 1:158,018,875 | C/T | intron variant | — |
| rs62642493 | 1:158,045,912 | C/T | — | benign |
| rs539625524 | 1:158,045,914 | C/T | — | uncertain significance |
| rs769466372 | 1:158,045,942 | C/T | — | uncertain significance |
| rs191487619 | 1:158,045,965 | G/A | — | benign |
| rs771960481 | 1:158,047,796 | G/A | — | uncertain significance |
| rs35927201 | 1:158,047,810 | G/A | — | likely benign |
| rs12081249 | 1:158,047,816 | G/A | — | benign |
| rs1401711005 | 1:158,047,839 | C/G | — | uncertain significance |
| rs1661739981 | 1:158,047,894 | G/A | — | uncertain significance |
| rs764691509 | 1:158,047,907 | G/A | — | uncertain significance |
| rs2526716538 | 1:158,047,916 | A/G | — | uncertain significance |
| rs1661959441 | 1:158,054,223 | G/C | — | uncertain significance |
| rs114925001 | 1:158,054,237 | C/T | — | benign |
| rs962225652 | 1:158,054,269 | C/A | — | uncertain significance |
| rs769514849 | 1:158,054,274 | C/G | — | uncertain significance |
| rs970762630 | 1:158,054,289 | C/T | — | uncertain significance |
| rs1423911425 | 1:158,054,316 | A/G | — | uncertain significance |
| rs1432424033 | 1:158,054,328 | T/A | — | uncertain significance |
| rs546719871 | 1:158,054,336 | C/T | — | likely benign |
| rs558318410 | 1:158,054,341 | C/T | — | uncertain significance |
| rs571258086 | 1:158,054,368 | C/T | — | uncertain significance |
| rs762298485 | 1:158,054,378 | C/T | — | likely benign |
| rs76537384 | 1:158,055,475 | T/C | intron variant | — |
| rs1207562323 | 1:158,056,419 | G/A | — | uncertain significance |
| rs1038309946 | 1:158,056,444 | C/T | — | uncertain significance |
| rs1047631371 | 1:158,056,528 | A/T | — | uncertain significance |
| rs34091069 | 1:158,057,599 | G/T | — | uncertain significance |
| rs1162124541 | 1:158,057,807 | G/C | — | uncertain significance |
| rs574166380 | 1:158,057,827 | G/A | — | uncertain significance |
| rs375932245 | 1:158,057,833 | G/A | — | uncertain significance |
| rs925768473 | 1:158,057,852 | A/G | — | uncertain significance |
| rs6427419 | 1:158,058,109 | C/A | splice region variant | — |
| rs560490359 | 1:158,058,211 | C/G | — | likely benign |
| rs201805473 | 1:158,059,327 | G/A | — | likely benign |
| rs146308217 | 1:158,059,381 | C/T | — | likely benign |
| rs1031178522 | 1:158,059,395 | G/T | — | uncertain significance |
| rs1321924541 | 1:158,059,404 | C/T | — | uncertain significance |
| rs139347921 | 1:158,059,558 | G/A | — | uncertain significance |
| rs375141355 | 1:158,059,580 | T/C | — | uncertain significance |
| rs1483553320 | 1:158,059,604 | G/A | — | uncertain significance |
| rs145693910 | 1:158,059,605 | C/A | — | benign |
| rs139886740 | 1:158,061,178 | G/A | — | uncertain significance |
| rs764090370 | 1:158,061,193 | C/T | — | pathogenic |
| rs140279613 | 1:158,061,294 | C/T | — | likely benign |
| rs143492342 | 1:158,061,309 | C/T | — | likely benign |
| rs779606574 | 1:158,063,154 | T/C | — | likely benign |
| rs146451784 | 1:158,063,164 | A/G | — | uncertain significance |
| rs139033699 | 1:158,063,170 | G/A | — | uncertain significance |
| rs2526780488 | 1:158,063,182 | C/A | — | uncertain significance |
| rs750903228 | 1:158,063,212 | T/G | — | uncertain significance |
| rs769957837 | 1:158,063,405 | C/T | — | likely benign |
| rs373226245 | 1:158,063,467 | G/A | — | uncertain significance |
| rs2526782258 | 1:158,063,485 | A/C | — | uncertain significance |
| rs773024825 | 1:158,063,494 | G/A | — | uncertain significance |
| rs774949376 | 1:158,063,544 | A/G | — | uncertain significance |
| rs370146930 | 1:158,063,545 | T/A | — | uncertain significance |
| rs139995772 | 1:158,063,551 | C/T | — | pathogenic |
| rs754958689 | 1:158,064,104 | C/T | — | uncertain significance |
| rs1662291029 | 1:158,064,107 | T/G | — | uncertain significance |
| rs145953444 | 1:158,064,111 | G/A | — | likely benign |
| rs143303568 | 1:158,064,139 | C/T | — | uncertain significance |
| rs754220759 | 1:158,064,457 | C/T | — | likely benign |
| rs369394669 | 1:158,064,461 | C/T | — | uncertain significance |
| rs138219114 | 1:158,064,481 | G/A | — | likely benign |
| rs1469320581 | 1:158,064,513 | G/A | — | uncertain significance |
| rs142272439 | 1:158,064,538 | C/T | — | likely benign |
| rs138458053 | 1:158,064,555 | G/A | — | uncertain significance |
| rs764033405 | 1:158,064,557 | C/G | — | uncertain significance |
| rs767938230 | 1:158,064,598 | C/G | — | uncertain significance |
| rs1416752452 | 1:158,064,633 | C/T | — | uncertain significance |
| rs1310882131 | 1:158,064,640 | T/C | — | likely benign |
| rs201145714 | 1:158,064,669 | C/A | — | uncertain significance |
| rs144069175 | 1:158,064,688 | C/T | — | likely benign |
| rs372675836 | 1:158,064,789 | G/A | — | uncertain significance |
| rs543613260 | 1:158,064,809 | G/A | — | uncertain significance |
| rs376940730 | 1:158,064,827 | G/A | — | uncertain significance |
| rs142807090 | 1:158,064,840 | G/A | — | uncertain significance |
| rs1461386888 | 1:158,064,852 | C/T | — | uncertain significance |
| rs772293472 | 1:158,064,869 | T/C | — | uncertain significance |
| rs760774061 | 1:158,064,872 | G/A | — | uncertain significance |
| rs1255668159 | 1:158,064,890 | C/T | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.