Copyright
©The Author(s) 2021.
World J Gastroenterol. Oct 21, 2021; 27(39): 6631-6646
Published online Oct 21, 2021. doi: 10.3748/wjg.v27.i39.6631
Published online Oct 21, 2021. doi: 10.3748/wjg.v27.i39.6631
Table 8 SLX4 mutation-related databases and pathogenicity analysis
| No. | cDNA/Protein | Disease database | Pathogenic judgment | ||
| HGMD | ClinVar | OMIM | |||
| 1 | p.N1691S | / | (1/1)Uncertain Significance | BTB/POZ domain containing 12\SLX4 structure-specific | Clinical significance unknown |
| 2 | c.1683+1G>A | / | / | BTB/POZ domain containing 12\SLX4 structure-specific | Likely pathogenic |
| 3 | p.P997L | / | / | BTB/POZ domain containing 12\SLX4 structure-specific | Clinical significance unknown |
| 18 | p.E809Q | √ | / | BTB (POZ) domain containing 12\SLX4 structure-specific | Clinical significance unknown |
| 22 | p.P190del | / | / | BTB (POZ) domain containing 12\SLX4 structure-specific | Clinical significance unknown |
- Citation: Gu GL, Zhang Z, Zhang YH, Yu PF, Dong ZW, Yang HR, Yuan Y. Detection and analysis of common pathogenic germline mutations in Peutz-Jeghers syndrome. World J Gastroenterol 2021; 27(39): 6631-6646
- URL: https://www.wjgnet.com/1007-9327/full/v27/i39/6631.htm
- DOI: https://dx.doi.org/10.3748/wjg.v27.i39.6631