|
Gene Mutations
|
|
|
| Records Return:
(2)
|
|
|
|
|
| Gene | Gene Omim Number | Disease Omim Number | Chromosome Location | Gene Mutation | Allelic Variant | Omim Phenotype | Sample Count |
| SYNGAP1 | 603384 | 612621 | 6p21.32 | c.2059C>T (p.Arg687*) | | Mental Retardation, Autosomal Dominant 5; MRD5 | 1 |
| SYNGAP1 | 603384 | 612621 | 6p21.32 | c.3718C>T (p.R1240X) | | MENTAL RETARDATION, AUTOSOMAL DOMINANT 5; MRD5 | 2 |
|
|
|