TMCO1
transmembrane and coiled-coil domains 1
Summary
This locus encodes a transmembrane protein. Mutations at this locus have been associated with craniofacial dysmorphism, skeletal anomalies, and cognitive disability. Mutations at this locus have also been associated with open angle glaucoma blindness. Alternatively spliced transcript variants have been described. [provided by RefSeq, Jan 2012]
Known Variants51 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs6660601 | 1:165,695,855 | C/T | downstream gene variant | — |
| rs2525193124 | 1:165,697,294 | A/G | — | uncertain significance |
| rs775529806 | 1:165,697,320 | G/A | — | likely benign |
| rs78363884 | 1:165,697,341 | G/A | — | benign |
| rs149249499 | 1:165,712,275 | A/G | — | likely benign |
| rs765379963 | 1:165,712,409 | G/A | — | pathogenic |
| rs1306085130 | 1:165,712,414 | G/A | — | uncertain significance |
| rs1558034218 | 1:165,712,455 | T/C | — | likely benign |
| rs1247427997 | 1:165,712,481 | G/A | — | pathogenic |
| rs780554889 | 1:165,712,489 | A/G | — | uncertain significance |
| rs1553249737 | 1:165,712,500 | G/T | — | pathogenic |
| rs2524786144 | 1:165,712,505 | A/G | — | uncertain significance |
| rs1349622376 | 1:165,712,532 | C/A | — | uncertain significance |
| rs2524786314 | 1:165,712,535 | C/G | — | uncertain significance |
| rs200248108 | 1:165,712,555 | G/A | — | likely benign |
| rs10918274 | 1:165,714,416 | T/G | — | — |
| rs12133745 | 1:165,714,682 | C/G | — | — |
| rs10800154 | 1:165,714,742 | C/T | — | — |
| rs6426939 | 1:165,715,300 | C/T | intron variant | — |
| rs7555523 | 1:165,718,979 | C/G | — | — |
| rs7512095 | 1:165,721,223 | T/C | — | benign |
| rs150384701 | 1:165,721,303 | T/C | — | likely benign |
| rs372701032 | 1:165,721,336 | C/G | — | pathogenic |
| rs763875549 | 1:165,721,402 | C/G | — | uncertain significance |
| rs201213306 | 1:165,721,403 | G/A | stop gained | pathogenic |
| rs1321209314 | 1:165,721,413 | T/C | — | likely benign |
| rs145104339 | 1:165,721,418 | C/T | — | likely benign |
| rs72699929 | 1:165,721,489 | A/T | — | benign |
| rs542510438 | 1:165,721,593 | C/A | — | likely benign |
| rs72699931 | 1:165,723,726 | T/C | — | benign |
| rs10800155 | 1:165,723,770 | A/G | — | benign |
| rs61800455 | 1:165,728,476 | C/T | — | likely benign |
| rs765824628 | 1:165,728,783 | G/A | stop gained | pathogenic |
| rs7528177 | 1:165,733,100 | A/T | — | — |
| rs7518099 | 1:165,736,880 | C/T | upstream gene variant | — |
| rs77313837 | 1:165,737,293 | A/G | — | likely benign |
| rs2790053 | 1:165,737,704 | C/G | — | benign |
| rs200020676 | 1:165,737,912 | C/T | — | likely benign |
| rs1230704450 | 1:165,737,914 | C/G | — | uncertain significance |
| rs929157192 | 1:165,737,919 | C/G | — | pathogenic |
| rs757084156 | 1:165,737,937 | T/G | — | uncertain significance |
| rs1652676730 | 1:165,737,945 | G/A | — | uncertain significance |
| rs765112121 | 1:165,738,038 | C/T | — | uncertain significance |
| rs62622803 | 1:165,738,054 | A/G | — | likely benign |
| rs771167297 | 1:165,738,057 | G/A | — | uncertain significance |
| rs566687101 | 1:165,738,064 | G/C | — | uncertain significance |
| rs75840847 | 1:165,738,078 | C/T | — | benign |
| rs780791020 | 1:165,738,105 | T/C | — | uncertain significance |
| rs2524863005 | 1:165,738,136 | G/C | — | likely benign |
| rs2251768 | 1:165,738,311 | A/T | — | benign |
| rs2790052 | 1:165,738,463 | G/C | — | benign |
Gene information from NCBI Gene. Variant classifications from ClinVar.