Gene: POLG ×
Source: INFERRED ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs201477273
rs201477273
POLG
A 0.700 CausalMutation CLINVAR Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria. 28492532

2017
dbSNP: rs201477273
rs201477273
POLG
A 0.700 CausalMutation CLINVAR Diagnostic utility of whole exome sequencing in patients showing cerebellar and/or vermis atrophy in childhood. 24091540

2013
dbSNP: rs201477273
rs201477273
POLG
A 0.700 CausalMutation CLINVAR Mitochondrial DNA polymerase gamma mutations: an ever expanding molecular and clinical spectrum. 21880868

2011
dbSNP: rs201477273
rs201477273
POLG
A 0.700 CausalMutation CLINVAR Purification and functional characterization of human mitochondrial DNA polymerase gamma harboring disease mutations. 20176107

2010
dbSNP: rs201477273
rs201477273
POLG
A 0.700 CausalMutation CLINVAR R964C mutation of DNA polymerase gamma imparts increased stavudine toxicity by decreasing nucleoside analog discrimination and impairing polymerase activity. 19364868

2009
dbSNP: rs201477273
rs201477273
POLG
A 0.700 CausalMutation CLINVAR A variable neurodegenerative phenotype with polymerase gamma mutation. 19762913

2009
dbSNP: rs201477273
rs201477273
POLG
A 0.700 CausalMutation CLINVAR Molecular and clinical genetics of mitochondrial diseases due to POLG mutations. 18546365

2008