Annotation Detail
Information
- Associated Genes
- POLG
- Associated Variants
-
POLG p.Gly1051Trp (p.G1051W)
(
ENST00000268124.11,
ENST00000636937.2,
ENST00000442287.6 )
POLG p.Gly1051Arg (p.G1051R) ( ENST00000442287.6, ENST00000268124.11, ENST00000636937.2 )
POLG p.Gly1051Arg (p.G1051R) ( ENST00000268124.11, ENST00000636937.2, ENST00000442287.6 )
POLG p.His932Tyr (p.H932Y) ( ENST00000442287.6, ENST00000268124.11, ENST00000636937.2 )
POLG p.Arg852Cys (p.R852C) ( ENST00000442287.6, ENST00000636937.2, ENST00000268124.11 )
POLG p.Trp748Ser (p.W748S) ( ENST00000442287.6, ENST00000636937.2, ENST00000268124.11 )
POLG p.Gly737Arg (p.G737R) ( ENST00000442287.6, ENST00000268124.11, ENST00000636937.2 )
POLG p.Gly737Arg (p.G737R) ( ENST00000268124.11, ENST00000636937.2, ENST00000442287.6 )
POLG p.Arg627Trp (p.R627W) ( ENST00000442287.6, ENST00000268124.11, ENST00000636937.2 )
POLG p.Ala467Thr (p.A467T) ( ENST00000268124.11, ENST00000636937.2, ENST00000442287.6 )
POLG p.Gly11Asp (p.G11D), POLGARF p.Arg29= (p.R29=) ( ENST00000706918.1, ENST00000636937.2, ENST00000268124.11, ENST00000442287.6 )
POLG p.Gly1051Trp (p.G1051W) ( ENST00000268124.11, ENST00000442287.6, ENST00000636937.2 )
POLG p.Gly1051Arg (p.G1051R) ( ENST00000268124.11, ENST00000442287.6, ENST00000636937.2 )
POLG p.Gly1051Arg (p.G1051R) ( ENST00000268124.11, ENST00000442287.6, ENST00000636937.2 )
POLG p.His932Tyr (p.H932Y) ( ENST00000268124.11, ENST00000442287.6, ENST00000636937.2 )
POLG p.Arg852Cys (p.R852C) ( ENST00000268124.11, ENST00000442287.6, ENST00000636937.2 )
POLG p.Trp748Ser (p.W748S) ( ENST00000268124.11, ENST00000442287.6, ENST00000636937.2 )
POLG p.Gly737Arg (p.G737R) ( ENST00000268124.11, ENST00000442287.6, ENST00000636937.2 )
POLG p.Gly737Arg (p.G737R) ( ENST00000268124.11, ENST00000442287.6, ENST00000636937.2 )
POLG p.Arg627Trp (p.R627W) ( ENST00000268124.11, ENST00000442287.6, ENST00000636937.2 )
POLG p.Ala467Thr (p.A467T) ( ENST00000268124.11, ENST00000442287.6, ENST00000636937.2 )
POLG p.Gly11Asp (p.G11D), POLGARF p.Arg29= (p.R29=) ( ENST00000268124.11, ENST00000442287.6, ENST00000636937.2, ENST00000706918.1 ) - Associated Disease
- sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
- Source Database
- DisGeNET
- Description
- NA
- Original source reporting the Gene Disease association
- CLINVAR
- DisGENET score for the Gene Disease association
- 0.480542883744161
- Year of publication
- NA
Drugs