Annotation Detail
Information
- Associated Genes
- POLG
- Associated Variants
-
POLG p.Pro1073Leu (p.P1073L)
(
ENST00000636937.2,
ENST00000442287.6,
ENST00000268124.11 )
POLG p.Asn864Ser (p.N864S) ( ENST00000636937.2, ENST00000268124.11, ENST00000442287.6 )
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.Thr251Ile (p.T251I) ( ENST00000636937.2, ENST00000268124.11, ENST00000442287.6 )
POLG p.Arg227Trp (p.R227W), POLGARF p.Ala245Val (p.A245V) ( ENST00000706918.1, ENST00000268124.11, ENST00000636937.2, ENST00000442287.6 )
POLG p.Pro1073Leu (p.P1073L) ( ENST00000268124.11, ENST00000442287.6, ENST00000636937.2 )
POLG p.Asn864Ser (p.N864S) ( 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.Thr251Ile (p.T251I) ( ENST00000268124.11, ENST00000442287.6, ENST00000636937.2 )
POLG p.Arg227Trp (p.R227W), POLGARF p.Ala245Val (p.A245V) ( ENST00000268124.11, ENST00000442287.6, ENST00000636937.2, ENST00000706918.1 ) - Associated Disease
- MITOCHONDRIAL DNA DEPLETION SYNDROME 4B (MNGIE TYPE)
- Source Database
- DisGeNET
- Description
- NA
- Original source reporting the Gene Disease association
- CLINVAR
- DisGENET score for the Gene Disease association
- 0.36
- Year of publication
- NA
Drugs