POLG, DNA polymerase gamma, catalytic subunit, 5428

N. diseases: 462; N. variants: 173
Disease: POLG mutation ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs267606959
rs267606959
Entrez Id: 5428
Gene Symbol: POLG
POLG
CUI: C3888962
Disease:
POLG mutation 		0.010 GeneticVariation BEFREE The heterozygous presence of the novel p.P1073L mutation in trans with another recessive POLG mutation causes a hepatocerebral disorder identical or very similar to Alpers syndrome. 20142534 2010