POP1
Gene name: POP1 homolog, ribonuclease P/MRP subunitOMIM ID: 602486
Chromosome location: 8q22.2
Mutations
| Disease/Phenotype | Anauxetic dysplasia |
|---|---|
| Reference transcript | NM_001145860.1 |
| DNA Change | c.1744C>T |
| A.A. Change | p.Pro582Ser |
| Exon/Intron | exon 13 |
| Mutation Type | substitution |
| Reference | Elalaoui SC, Laarabi FZ, Mansouri M, Mrani NA, Nishimura G, Sefiani A.
Further evidence of POP1 mutations as the cause of anauxetic dysplasia. Am J Med Genet A. 2016 Sep;170(9):2462-5. doi: 10.1002/ajmg.a.37839. Epub 2016 Jul 6. |