SYCP3
synaptonemal complex protein 3
Summary
This gene encodes an essential structural component of the synaptonemal complex. This complex is involved in synapsis, recombination and segregation of meiotic chromosomes. Mutations in this gene are associated with azoospermia in males and susceptibility to pregnancy loss in females. Alternate splicing results in multiple transcript variants that encode the same protein. [provided by RefSeq, May 2010]
Known Variants38 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs115484757 | 12:102,122,042 | C/T | downstream gene variant | — |
| rs1952040058 | 12:102,122,462 | G/C | — | uncertain significance |
| rs17723833 | 12:102,122,500 | T/C | — | benign |
| rs537685305 | 12:102,122,507 | C/T | — | uncertain significance |
| rs115013475 | 12:102,122,522 | T/C | — | benign |
| rs766706182 | 12:102,122,740 | T/C | — | uncertain significance |
| rs190337934 | 12:102,122,750 | T/C | — | benign |
| rs1248602029 | 12:102,122,751 | T/A | — | uncertain significance |
| rs769825641 | 12:102,122,887 | A/G | splice region variant | pathogenic |
| rs1384762953 | 12:102,122,946 | C/T | — | uncertain significance |
| rs2547914170 | 12:102,122,955 | G/A | — | uncertain significance |
| rs1241265217 | 12:102,122,990 | C/T | — | uncertain significance |
| rs587776620 | 12:102,123,009 | — | — | pathogenic |
| rs4764651 | 12:102,123,221 | C/A | — | benign |
| rs11110986 | 12:102,125,090 | G/A | — | benign |
| rs140320814 | 12:102,125,402 | T/G | — | uncertain significance |
| rs1203049199 | 12:102,125,414 | G/A | — | uncertain significance |
| rs10860779 | 12:102,127,262 | C/A | — | benign |
| rs78591432 | 12:102,127,371 | T/C | — | benign |
| rs10860780 | 12:102,127,714 | T/G | — | benign |
| rs1443290958 | 12:102,128,767 | C/G | — | uncertain significance |
| rs1952350079 | 12:102,128,817 | T/G | — | uncertain significance |
| rs557142030 | 12:102,130,014 | A/G | — | — |
| rs3751248 | 12:102,131,564 | C/A | — | benign |
| rs762215378 | 12:102,131,620 | T/C | — | uncertain significance |
| rs369926426 | 12:102,131,623 | C/T | — | uncertain significance |
| rs2547938612 | 12:102,131,628 | G/A | — | uncertain significance |
| rs193241367 | 12:102,131,634 | A/G | — | likely benign |
| rs143228358 | 12:102,131,655 | T/C | — | benign |
| rs148305711 | 12:102,131,682 | T/A | — | uncertain significance |
| rs1952523498 | 12:102,131,686 | T/A | — | uncertain significance |
| rs370045181 | 12:102,131,696 | T/A | — | uncertain significance |
| rs137993065 | 12:102,133,164 | G/C | — | benign |
| rs886048840 | 12:102,133,175 | G/A | — | uncertain significance |
| rs541789192 | 12:102,133,185 | A/G | — | uncertain significance |
| rs143456701 | 12:102,133,217 | T/C | — | benign |
| rs17031944 | 12:102,133,233 | A/T | — | benign |
| rs75511610 | 12:102,133,312 | C/T | — | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.