Annotation Detail
Information
- Associated Genes
- POLG
- Associated Variants
-
POLG p.Pro1073Leu (p.P1073L)
(
ENST00000636937.2,
ENST00000442287.6,
ENST00000268124.11 )
POLG p.Glu873Ter (p.E873*) ( ENST00000442287.6, ENST00000636937.2, ENST00000268124.11 )
POLG p.Gly848Ser (p.G848S) ( ENST00000636937.2, ENST00000268124.11, ENST00000442287.6 )
POLG p.Trp748Ser (p.W748S) ( ENST00000442287.6, ENST00000636937.2, ENST00000268124.11 )
POLG p.Ala467Thr (p.A467T) ( ENST00000268124.11, ENST00000636937.2, ENST00000442287.6 )
POLG p.Thr251Ile (p.T251I) ( ENST00000636937.2, ENST00000268124.11, ENST00000442287.6 )
POLG p.Pro1073Leu (p.P1073L) ( ENST00000268124.11, ENST00000442287.6, ENST00000636937.2 )
POLG p.Glu873Ter (p.E873*) ( ENST00000268124.11, ENST00000442287.6, ENST00000636937.2 )
POLG p.Gly848Ser (p.G848S) ( ENST00000268124.11, ENST00000442287.6, ENST00000636937.2 )
POLG p.Trp748Ser (p.W748S) ( ENST00000268124.11, ENST00000442287.6, ENST00000636937.2 )
POLG p.Ala467Thr (p.A467T) ( ENST00000268124.11, ENST00000442287.6, ENST00000636937.2 )
POLG p.Thr251Ile (p.T251I) ( ENST00000268124.11, ENST00000442287.6, ENST00000636937.2 ) - Associated Disease
- Alpers Syndrome (disorder)
- Source Database
- DisGeNET
- Description
- NA
- Original source reporting the Gene Disease association
- CLINVAR
- DisGENET score for the Gene Disease association
- 0.48868613990657
- Year of publication
- NA
Drugs