Annotation Detail
Information
- Associated Genes
- POLG
- Associated Variants
-
POLG p.Arg853Trp (p.R853W)
(
ENST00000442287.6,
ENST00000636937.2,
ENST00000268124.11 )
POLG p.Arg852Cys (p.R852C) ( ENST00000442287.6, ENST00000636937.2, ENST00000268124.11 )
POLG p.Gly848Ser (p.G848S) ( ENST00000636937.2, ENST00000268124.11, ENST00000442287.6 )
POLG p.Gly737Arg (p.G737R) ( ENST00000442287.6, ENST00000268124.11, ENST00000636937.2 )
POLG p.Gly737Arg (p.G737R) ( ENST00000268124.11, ENST00000636937.2, ENST00000442287.6 )
POLG p.Pro587Leu (p.P587L) ( ENST00000442287.6, ENST00000636937.2, ENST00000268124.11 )
POLG p.Ala467Thr (p.A467T) ( ENST00000268124.11, ENST00000636937.2, ENST00000442287.6 )
POLG p.Leu304Arg (p.L304R) ( ENST00000268124.11, ENST00000636937.2, ENST00000442287.6 )
POLG p.Thr251Ile (p.T251I) ( ENST00000636937.2, ENST00000268124.11, ENST00000442287.6 )
POLG p.Gly11Asp (p.G11D), POLGARF p.Arg29= (p.R29=) ( ENST00000706918.1, ENST00000636937.2, ENST00000268124.11, ENST00000442287.6 )
POLG p.Arg3Pro (p.R3P), POLGARF p.Pro21= (p.P21=) ( ENST00000706918.1, ENST00000636937.2, ENST00000268124.11, ENST00000442287.6 )
POLG p.Arg853Trp (p.R853W) ( ENST00000268124.11, ENST00000442287.6, ENST00000636937.2 )
POLG p.Arg852Cys (p.R852C) ( ENST00000268124.11, ENST00000442287.6, ENST00000636937.2 )
POLG p.Gly848Ser (p.G848S) ( 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.Pro587Leu (p.P587L) ( ENST00000268124.11, ENST00000442287.6, ENST00000636937.2 )
POLG p.Ala467Thr (p.A467T) ( ENST00000268124.11, ENST00000442287.6, ENST00000636937.2 )
POLG p.Leu304Arg (p.L304R) ( ENST00000268124.11, ENST00000442287.6, ENST00000636937.2 )
POLG p.Thr251Ile (p.T251I) ( ENST00000268124.11, ENST00000442287.6, ENST00000636937.2 )
POLG p.Gly11Asp (p.G11D), POLGARF p.Arg29= (p.R29=) ( ENST00000268124.11, ENST00000442287.6, ENST00000636937.2, ENST00000706918.1 )
POLG p.Arg3Pro (p.R3P), POLGARF p.Pro21= (p.P21=) ( ENST00000268124.11, ENST00000442287.6, ENST00000636937.2, ENST00000706918.1 ) - Associated Disease
- PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE
- 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