CLMP
CXADR like cell adhesion molecule
Summary
This gene encodes a type I transmembrane protein that is localized to junctional complexes between endothelial and epithelial cells and may have a role in cell-cell adhesion. Expression of this gene in white adipose tissue is implicated in adipocyte maturation and development of obesity. This gene is also essential for normal intestinal development and mutations in the gene are associated with congenital short bowel syndrome. [provided by RefSeq, Aug 2015]
Known Variants47 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs150240752 | 11:122,944,189 | G/A | — | uncertain significance |
| rs369748593 | 11:122,944,272 | T/C | — | likely benign |
| rs142456942 | 11:122,944,293 | T/C | — | benign |
| rs199985664 | 11:122,944,341 | G/A | — | likely benign |
| rs749210141 | 11:122,944,357 | C/T | — | uncertain significance |
| rs898341255 | 11:122,944,412 | G/A | — | uncertain significance |
| rs142239120 | 11:122,944,416 | G/A | — | benign |
| rs201115327 | 11:122,944,421 | G/A | — | uncertain significance |
| rs151226212 | 11:122,944,438 | G/A | — | uncertain significance |
| rs139133124 | 11:122,944,456 | C/T | — | uncertain significance |
| rs4936771 | 11:122,944,739 | A/T | intron variant | — |
| rs587776965 | 11:122,945,410 | C/T | missense variant | pathogenic |
| rs369507357 | 11:122,945,503 | G/A | — | uncertain significance |
| rs11218953 | 11:122,945,908 | A/C | intron variant | — |
| rs76381550 | 11:122,946,401 | T/C | intron variant | — |
| rs7115313 | 11:122,949,414 | G/A | intron variant | — |
| rs7115329 | 11:122,949,545 | C/A | — | — |
| rs901336794 | 11:122,953,805 | C/G | — | uncertain significance |
| rs587776966 | 11:122,953,808 | G/A | stop gained | pathogenic |
| rs1211570017 | 11:122,953,850 | A/G | — | uncertain significance |
| rs2539916369 | 11:122,953,888 | A/T | — | uncertain significance |
| rs1394600425 | 11:122,953,898 | G/A | — | likely pathogenic |
| rs765907815 | 11:122,954,436 | G/A | stop gained | pathogenic |
| rs112659755 | 11:122,954,491 | C/T | — | benign |
| rs2135468678 | 11:122,954,523 | C/A | — | pathogenic |
| rs879253854 | 11:122,954,534 | C/T | missense variant | pathogenic |
| rs202047829 | 11:122,954,536 | C/T | — | benign |
| rs587776967 | 11:122,955,237 | A/T | missense variant | pathogenic |
| rs748967980 | 11:122,955,255 | C/T | — | uncertain significance |
| rs1443251173 | 11:122,955,271 | C/T | — | uncertain significance |
| rs150466973 | 11:122,955,310 | G/A | — | likely benign |
| rs750651117 | 11:122,955,349 | A/T | — | uncertain significance |
| rs587776964 | 11:122,955,378 | — | — | pathogenic |
| rs746453314 | 11:122,955,403 | G/A | — | uncertain significance |
| rs141630801 | 11:122,963,655 | G/A | intron variant | — |
| rs146055456 | 11:122,968,526 | C/T | — | benign |
| rs753874910 | 11:122,968,528 | G/A | — | uncertain significance |
| rs140007158 | 11:122,968,598 | C/A | — | uncertain significance |
| rs759661592 | 11:122,968,641 | G/C | — | likely benign |
| rs879253855 | 11:122,968,662 | T/C | — | pathogenic |
| rs10458940 | 11:122,981,076 | C/A | — | — |
| rs11218995 | 11:122,991,792 | G/A | intron variant | — |
| rs10892969 | 11:123,003,381 | A/G | downstream gene variant | — |
| rs118117028 | 11:123,049,593 | G/A | intron variant | — |
| rs193170273 | 11:123,052,228 | C/T | intron variant | — |
| rs7941947 | 11:123,064,648 | T/C | intron variant | — |
| rs749804569 | 11:123,065,620 | C/T | — | likely pathogenic |
Gene information from NCBI Gene. Variant classifications from ClinVar.