GJB3
gap junction protein beta 3
Summary
This gene is a member of the connexin gene family. The encoded protein is a component of gap junctions, which are composed of arrays of intercellular channels that provide a route for the diffusion of low molecular weight materials from cell to cell. Mutations in this gene can cause non-syndromic deafness or erythrokeratodermia variabilis, a skin disorder. Alternative splicing results in multiple transcript variants encoding the same protein. [provided by RefSeq, Jul 2008]
Known Variants182 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs538085084 | 1:35,246,799 | T/C | — | uncertain significance |
| rs1326117272 | 1:35,246,925 | G/C | — | uncertain significance |
| rs1047993530 | 1:35,246,928 | T/C | — | uncertain significance |
| rs547065589 | 1:35,246,998 | C/T | — | benign |
| rs141275770 | 1:35,247,006 | G/A | — | uncertain significance |
| rs1057515443 | 1:35,247,007 | C/G | — | uncertain significance |
| rs1057515476 | 1:35,247,022 | G/A | — | uncertain significance |
| rs764352147 | 1:35,247,098 | T/C | — | uncertain significance |
| rs1640007942 | 1:35,247,112 | C/G | — | uncertain significance |
| rs1640008053 | 1:35,247,120 | C/A | — | uncertain significance |
| rs1057515551 | 1:35,247,174 | G/A | — | uncertain significance |
| rs1057515477 | 1:35,247,228 | G/A | — | uncertain significance |
| rs987840683 | 1:35,247,246 | T/C | — | uncertain significance |
| rs910647846 | 1:35,247,255 | C/T | — | uncertain significance |
| rs113824402 | 1:35,247,264 | C/G | — | benign |
| rs1057515515 | 1:35,247,312 | C/T | — | uncertain significance |
| rs1640012751 | 1:35,247,335 | C/T | — | uncertain significance |
| rs559520550 | 1:35,247,365 | G/A | — | benign |
| rs76376530 | 1:35,250,293 | A/G | — | benign |
| rs371413520 | 1:35,250,346 | C/T | — | likely benign |
| rs200902087 | 1:35,250,360 | C/T | — | conflicting classifications of pathogenicity |
| rs200397530 | 1:35,250,361 | G/A | — | conflicting classifications of pathogenicity |
| rs1557659237 | 1:35,250,371 | G/A | — | pathogenic |
| rs112499125 | 1:35,250,396 | C/T | — | likely benign |
| rs74315315 | 1:35,250,397 | G/C | missense variant | pathogenic |
| rs74315316 | 1:35,250,398 | G/A | missense variant | pathogenic |
| rs755025684 | 1:35,250,416 | C/T | — | uncertain significance |
| rs77186953 | 1:35,250,420 | G/A | — | likely benign |
| rs749654470 | 1:35,250,424 | G/A | — | conflicting classifications of pathogenicity |
| rs145247495 | 1:35,250,427 | C/T | — | uncertain significance |
| rs551762597 | 1:35,250,428 | G/A | — | uncertain significance |
| rs775072109 | 1:35,250,442 | G/A | — | uncertain significance |
| rs201567729 | 1:35,250,450 | C/T | — | likely benign |
| rs1805063 | 1:35,250,457 | C/T | — | benign |
| rs727504610 | 1:35,250,462 | G/A | — | likely benign |
| rs28937583 | 1:35,250,464 | T/C | missense variant | pathogenic |
| rs149623367 | 1:35,250,467 | T/C | — | uncertain significance |
| rs546531284 | 1:35,250,471 | C/T | — | likely benign |
| rs148388884 | 1:35,250,472 | G/C | — | uncertain significance |
| rs1064794946 | 1:35,250,473 | T/A | missense variant | pathogenic |
| rs147459176 | 1:35,250,486 | G/T | — | uncertain significance |
| rs74315321 | 1:35,250,488 | G/C | missense variant | pathogenic |
| rs776320459 | 1:35,250,489 | C/T | — | conflicting classifications of pathogenicity |
| rs765108155 | 1:35,250,493 | T/A | — | uncertain significance |
| rs781630610 | 1:35,250,494 | G/C | — | uncertain significance |
| rs1219815312 | 1:35,250,495 | G/A | — | uncertain significance |
| rs2148354097 | 1:35,250,497 | G/C | — | likely pathogenic |
| rs2521970403 | 1:35,250,519 | C/G | — | uncertain significance |
| rs1640076800 | 1:35,250,524 | A/C | — | uncertain significance |
| rs779347602 | 1:35,250,528 | C/T | — | likely benign |
| rs746219527 | 1:35,250,529 | A/C | — | uncertain significance |
| rs759040521 | 1:35,250,537 | C/T | — | likely benign |
| rs1325659853 | 1:35,250,538 | G/A | — | uncertain significance |
| rs780675578 | 1:35,250,540 | C/A | — | likely benign |
| rs373186826 | 1:35,250,549 | C/T | — | likely benign |
| rs61732295 | 1:35,250,550 | G/A | — | conflicting classifications of pathogenicity |
| rs201937833 | 1:35,250,559 | G/A | — | uncertain significance |
| rs145542354 | 1:35,250,560 | A/G | — | uncertain significance |
| rs762735971 | 1:35,250,582 | C/A | — | uncertain significance |
| rs370476720 | 1:35,250,586 | C/T | — | conflicting classifications of pathogenicity |
| rs759343166 | 1:35,250,587 | G/A | — | uncertain significance |
| rs2521971050 | 1:35,250,596 | C/A | — | uncertain significance |
| rs1033089288 | 1:35,250,598 | C/T | — | likely benign |
| rs764266948 | 1:35,250,602 | A/G | — | uncertain significance |
| rs2521971141 | 1:35,250,604 | C/G | — | uncertain significance |
| rs1165170158 | 1:35,250,606 | C/T | — | likely benign |
| rs757555087 | 1:35,250,610 | T/C | — | uncertain significance |
| rs1640079217 | 1:35,250,612 | C/T | — | uncertain significance |
| rs145751680 | 1:35,250,613 | G/A | — | likely benign |
| rs2521971506 | 1:35,250,618 | A/G | — | likely benign |
| rs74315317 | 1:35,250,619 | T/A | missense variant | pathogenic |
| rs1640079536 | 1:35,250,621 | C/A | — | uncertain significance |
| rs1301035918 | 1:35,250,625 | T/G | — | uncertain significance |
| rs201469743 | 1:35,250,627 | G/A | — | likely benign |
| rs144131831 | 1:35,250,645 | C/T | — | likely benign |
| rs777376931 | 1:35,250,646 | G/A | — | uncertain significance |
| rs151179820 | 1:35,250,655 | C/T | — | uncertain significance |
| rs201314683 | 1:35,250,656 | G/A | — | conflicting classifications of pathogenicity |
| rs771889003 | 1:35,250,658 | G/A | — | uncertain significance |
| rs1571580224 | 1:35,250,660 | G/A | — | likely benign |
| rs1028370381 | 1:35,250,661 | G/A | missense variant | pathogenic |
| rs765605645 | 1:35,250,665 | G/A | — | conflicting classifications of pathogenicity |
| rs200690266 | 1:35,250,674 | G/A | — | uncertain significance |
| rs150245955 | 1:35,250,676 | C/A | — | conflicting classifications of pathogenicity |
| rs147106166 | 1:35,250,679 | C/T | — | conflicting classifications of pathogenicity |
| rs369979083 | 1:35,250,680 | G/A | — | conflicting classifications of pathogenicity |
| rs2148354284 | 1:35,250,684 | G/C | — | uncertain significance |
| rs2148354286 | 1:35,250,688 | C/A | — | uncertain significance |
| rs143866277 | 1:35,250,691 | G/A | — | uncertain significance |
| rs544836576 | 1:35,250,697 | C/A | — | conflicting classifications of pathogenicity |
| rs2521972705 | 1:35,250,698 | A/G | — | uncertain significance |
| rs372771182 | 1:35,250,700 | T/C | — | uncertain significance |
| rs199689484 | 1:35,250,703 | G/A | — | conflicting classifications of pathogenicity |
| rs770903071 | 1:35,250,704 | C/A | — | uncertain significance |
| rs150776404 | 1:35,250,707 | A/C | — | uncertain significance |
| rs144085767 | 1:35,250,710 | T/G | — | uncertain significance |
| rs373400072 | 1:35,250,715 | G/A | — | uncertain significance |
| rs41310442 | 1:35,250,720 | C/T | — | benign |
| rs2521973131 | 1:35,250,734 | A/G | — | uncertain significance |
| rs145436095 | 1:35,250,735 | C/T | — | likely benign |
Showing 100 of 182 variants. Use the SNP search for the full list.
Gene information from NCBI Gene. Variant classifications from ClinVar.