SMC1B
structural maintenance of chromosomes 1B
Summary
SMC1L2 belongs to a family of proteins required for chromatid cohesion and DNA recombination during meiosis and mitosis (3:Revenkova et al., 2001 [PubMed 11564881]).[supplied by OMIM, Mar 2008]
Known Variants58 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs3747238 | 22:45,740,096 | C/T | downstream gene variant | — |
| rs3747239 | 22:45,740,126 | A/C | downstream gene variant | — |
| rs757744760 | 22:45,740,441 | C/T | — | likely benign |
| rs148739949 | 22:45,740,462 | C/G | — | benign |
| rs1268206766 | 22:45,741,345 | G/C | — | uncertain significance |
| rs9626312 | 22:45,741,364 | G/A | — | benign |
| rs750985241 | 22:45,741,366 | C/T | — | uncertain significance |
| rs9614648 | 22:45,745,116 | G/A | intron variant | — |
| rs9614460 | 22:45,745,229 | T/G | intron variant | — |
| rs2518270813 | 22:45,745,629 | C/G | — | uncertain significance |
| rs2518274881 | 22:45,748,426 | G/T | — | uncertain significance |
| rs371921978 | 22:45,748,489 | C/T | — | likely benign |
| rs927159411 | 22:45,749,911 | A/G | — | uncertain significance |
| rs61735519 | 22:45,749,966 | G/C | — | benign |
| rs762371491 | 22:45,754,629 | T/C | — | uncertain significance |
| rs780426114 | 22:45,755,698 | A/G | — | uncertain significance |
| rs765906991 | 22:45,755,779 | C/T | — | uncertain significance |
| rs73442488 | 22:45,755,848 | C/T | — | benign |
| rs2518300554 | 22:45,765,870 | T/G | — | uncertain significance |
| rs75007763 | 22:45,767,413 | A/G | — | benign |
| rs751858356 | 22:45,768,070 | T/A | — | uncertain significance |
| rs972761676 | 22:45,768,093 | T/A | — | uncertain significance |
| rs6007002 | 22:45,768,749 | G/C | intron variant | — |
| rs369549470 | 22:45,779,372 | C/T | — | uncertain significance |
| rs201142966 | 22:45,779,406 | C/T | — | uncertain significance |
| rs2518318336 | 22:45,779,430 | A/T | — | uncertain significance |
| rs773793337 | 22:45,782,792 | C/T | — | uncertain significance |
| rs765899623 | 22:45,782,896 | G/A | — | uncertain significance |
| rs768827050 | 22:45,785,704 | C/T | — | uncertain significance |
| rs367777287 | 22:45,789,573 | G/A | — | uncertain significance |
| rs2087090353 | 22:45,789,719 | T/C | — | uncertain significance |
| rs369162388 | 22:45,792,238 | A/C | — | uncertain significance |
| rs761872713 | 22:45,792,241 | C/G | — | uncertain significance |
| rs569963609 | 22:45,792,282 | G/T | — | uncertain significance |
| rs201522220 | 22:45,792,283 | T/G | — | uncertain significance |
| rs377362888 | 22:45,792,321 | C/A | — | uncertain significance |
| rs753779938 | 22:45,795,052 | C/A | — | uncertain significance |
| rs1488058297 | 22:45,795,147 | A/G | — | uncertain significance |
| rs2518036076 | 22:45,795,167 | G/A | — | likely benign |
| rs781614640 | 22:45,795,225 | T/C | — | likely pathogenic |
| rs753058246 | 22:45,798,234 | T/C | — | uncertain significance |
| rs2518040966 | 22:45,798,274 | C/T | — | uncertain significance |
| rs117905694 | 22:45,798,329 | A/G | — | benign |
| rs764355565 | 22:45,798,365 | C/A | — | uncertain significance |
| rs774462941 | 22:45,798,444 | C/T | — | uncertain significance |
| rs199651348 | 22:45,802,354 | A/G | — | uncertain significance |
| rs371556570 | 22:45,802,355 | A/T | — | uncertain significance |
| rs773691317 | 22:45,802,402 | T/C | — | uncertain significance |
| rs2518047623 | 22:45,802,467 | C/G | — | uncertain significance |
| rs1484611264 | 22:45,802,514 | G/T | — | uncertain significance |
| rs1391041299 | 22:45,802,540 | G/A | — | uncertain significance |
| rs767693421 | 22:45,802,656 | G/C | — | uncertain significance |
| rs200460572 | 22:45,802,704 | C/T | — | uncertain significance |
| rs61755307 | 22:45,802,728 | C/T | — | likely benign |
| rs1010835919 | 22:45,802,745 | C/T | — | likely benign |
| rs61748562 | 22:45,804,621 | C/T | — | uncertain significance |
| rs2087294088 | 22:45,804,644 | A/G | — | uncertain significance |
| rs370046682 | 22:45,809,408 | G/A | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.