www.bioinf.org.uk : Dr. Andrew C.R. Martin's Group
OMIM database last updated 30-Sep-2008
Total number of OMIM entries with allelic variant records: 1356
Total number of mutations: 7588
Number of OMIM entries cross-linked from SwissProt: 1353 (99.8%)
This represents 7466 mutations (98.4%)
| Validated (Class A) mutations: | 7162 (95.9%) | from 1254 (92.7%) OMIM entries |
| Probable (Class B) mutations: | 87 (1.2%) | from 27 (2.0%) OMIM entries |
| Unidentified (Class C) mutations: | 512 (6.9%) | from 243 (18.0%) OMIM entries |
2318 mutations (31.0%) required an offset to be applied.
These came from 198 OMIM entries (14.6%).
In total, 261 OMIM entries linked to SwissProt (19.3%) contain errors or inconsistencies.