Haplotype-region information | Gene | OMIM/OMIA | Associated disorder/gene function | Variant designationb | ||||
---|---|---|---|---|---|---|---|---|
Name | Approach | Genomic position | Transcript | Coding DNA change | Protein change | |||
OH2 | Trio and pgp | TUBGCP5 | 608147 | Proper formation of the mitotic spindles | chr2:1268426 | NM_001102495.1 | c.311C>A | p.Thr104Lys |
OH4 | Trio and pgp | LIG3 | 600940 | Embryonic lethality | chr19:15080335 | NM_001038107.2 | c.2483_2484 + 4delAGGTGC | p.Lys828fs |