BCAM
basal cell adhesion molecule (Lutheran blood group)
Summary
This gene encodes Lutheran blood group glycoprotein, a member of the immunoglobulin superfamily and a receptor for the extracellular matrix protein, laminin. The protein contains five extracellular immunoglobulin domains, a single transmembrane domain, and a short C-terminal cytoplasmic tail. This protein may play a role in epithelial cell cancer and in vaso-occlusion of red blood cells in sickle cell disease. Polymorphisms in this gene define some of the antigens in the Lutheran system and also the Auberger system. Inactivating variants of this gene result in the recessive Lutheran null phenotype, Lu(a-b-), of the Lutheran blood group. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2012]
Known Variants75 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs73048258 | 19:45,311,144 | C/A | regulatory region variant | — |
| rs560898656 | 19:45,311,310 | T/G | — | — |
| rs1715718011 | 19:45,312,430 | C/G | — | uncertain significance |
| rs185122966 | 19:45,313,452 | C/T | regulatory region variant | — |
| rs139289024 | 19:45,314,491 | C/G | — | uncertain significance |
| rs141053619 | 19:45,314,515 | C/T | — | likely benign |
| rs28399653 | 19:45,315,445 | G/A | missense variant | benign |
| rs770570368 | 19:45,315,502 | G/A | — | uncertain significance |
| rs754743891 | 19:45,315,540 | C/T | — | uncertain significance |
| rs121918133 | 19:45,315,576 | C/T | stop gained | pathogenic |
| rs202233299 | 19:45,315,585 | G/A | — | uncertain significance |
| rs753363632 | 19:45,315,641 | C/T | — | likely benign |
| rs778465310 | 19:45,315,642 | G/A | — | uncertain significance |
| rs200398713 | 19:45,315,656 | T/A | — | likely benign |
| rs546628999 | 19:45,315,740 | C/T | — | uncertain significance |
| rs528070791 | 19:45,316,221 | A/G | — | — |
| rs372019933 | 19:45,316,423 | C/A | — | — |
| rs1968452620 | 19:45,316,559 | A/G | — | uncertain significance |
| rs28399656 | 19:45,316,704 | T/A | — | likely benign |
| rs750448599 | 19:45,316,712 | C/G | — | uncertain significance |
| rs1568572003 | 19:45,316,715 | A/G | — | uncertain significance |
| rs775892256 | 19:45,316,759 | C/G | — | likely benign |
| rs121918132 | 19:45,316,784 | C/T | stop gained | pathogenic |
| rs200124143 | 19:45,316,785 | G/C | — | uncertain significance |
| rs3810141 | 19:45,316,804 | C/T | synonymous variant | benign |
| rs3810140 | 19:45,316,807 | C/T | — | benign |
| rs139275212 | 19:45,316,825 | C/G | — | benign |
| rs937403612 | 19:45,316,827 | A/T | — | uncertain significance |
| rs144105059 | 19:45,316,845 | T/A | — | uncertain significance |
| rs757599474 | 19:45,316,857 | C/T | — | uncertain significance |
| rs139610351 | 19:45,317,448 | C/T | missense variant | — |
| rs748377367 | 19:45,317,453 | C/T | — | uncertain significance |
| rs9967601 | 19:45,317,469 | G/A | — | benign |
| rs200794949 | 19:45,317,852 | G/A | — | benign |
| rs190232001 | 19:45,317,894 | G/A | — | uncertain significance |
| rs368656529 | 19:45,317,925 | G/A | — | uncertain significance |
| rs182019561 | 19:45,317,934 | G/A | — | uncertain significance |
| rs375498217 | 19:45,317,935 | C/T | — | likely benign |
| rs371206032 | 19:45,317,969 | G/A | — | uncertain significance |
| rs777905118 | 19:45,318,009 | G/A | — | likely benign |
| rs180887453 | 19:45,318,495 | A/G | intron variant | — |
| rs188855455 | 19:45,321,790 | C/G | — | uncertain significance |
| rs141978868 | 19:45,321,822 | A/T | — | uncertain significance |
| rs28399626 | 19:45,321,841 | G/A | — | benign |
| rs138302587 | 19:45,321,856 | G/A | — | uncertain significance |
| rs774225110 | 19:45,322,016 | G/A | — | uncertain significance |
| rs28399629 | 19:45,322,030 | G/T | — | benign |
| rs144034004 | 19:45,322,059 | A/G | — | uncertain significance |
| rs148674435 | 19:45,322,070 | G/A | — | likely benign |
| rs760062678 | 19:45,322,083 | C/T | — | uncertain significance |
| rs560266052 | 19:45,322,113 | C/A | — | uncertain significance |
| rs28399630 | 19:45,322,327 | A/C | — | likely benign |
| rs1968542674 | 19:45,322,361 | G/A | — | uncertain significance |
| rs28399631 | 19:45,322,377 | C/G | — | uncertain significance |
| rs370468726 | 19:45,322,385 | C/T | — | uncertain significance |
| rs557734196 | 19:45,322,405 | G/A | — | uncertain significance |
| rs759902037 | 19:45,322,434 | C/A | — | uncertain significance |
| rs577903824 | 19:45,322,442 | G/A | — | uncertain significance |
| rs2513687990 | 19:45,322,675 | A/C | — | uncertain significance |
| rs1135062 | 19:45,322,744 | A/G | missense variant | benign |
| rs141886629 | 19:45,322,746 | C/T | — | likely benign |
| rs150220926 | 19:45,322,840 | G/A | — | benign |
| rs147414755 | 19:45,322,910 | G/A | — | uncertain significance |
| rs139746192 | 19:45,322,913 | G/A | — | uncertain significance |
| rs372955312 | 19:45,322,931 | G/A | — | likely benign |
| rs761165322 | 19:45,322,959 | G/A | — | likely benign |
| rs142092405 | 19:45,323,344 | A/G | intron variant | — |
| rs200801658 | 19:45,323,958 | C/T | — | likely benign |
| rs199854072 | 19:45,323,964 | C/T | — | likely benign |
| rs776494231 | 19:45,324,005 | C/T | — | uncertain significance |
| rs554192287 | 19:45,324,008 | G/A | — | uncertain significance |
| rs574102519 | 19:45,324,017 | G/A | — | uncertain significance |
| rs139845447 | 19:45,324,071 | G/A | — | likely benign |
| rs201049330 | 19:45,324,164 | G/A | — | likely benign |
| rs28399665 | 19:45,324,897 | C/T | downstream gene variant | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.