rs121918046, POLG

N. diseases: 4
Disease: Mitochondrial Diseases ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Mitochondrial Diseases
CUI: C0751651
Disease: Mitochondrial Diseases
0.010 GeneticVariation BEFREE Subsequent Sanger sequencing of POLG in a further 275 unrelated probands with genetically unconfirmed mitochondrial disease revealed a third unrelated proband with a similar phenotype harboring homozygous c.1879C>T; p.R627W mutations and a fourth patient, with a milder clinical disorder, harboring compound heterozygous POLG c.1879C>T; p.R627W and c.2341G>A; p.A781T mutations. 31425757 2019