PTRF
Gene name: polymerase I and transcript release factorOMIM ID: 603198
Chromosome location: 17q21.2
Mutations
| Disease/Phenotype | Lipodystrophy, congenital generalized, type 4 |
|---|---|
| Reference transcript | NM_012232.5 |
| DNA Change | c.947delA |
| A.A. Change | p.Tyr316Serfs*103 |
| Exon/Intron | exon 2 |
| Mutation Type | deletion |
| Reference | Ardissone A, Bragato C, Caffi L, Blasevich F, Maestrini S, Bianchi ML, Morandi L, Moroni I, Mora M.Novel PTRF mutation in a child with mild myopathy and very mild congenital lipodystrophy. BMC Med Genet. 2013 Sep 11;14:89. |