Annotation Detail
Information
- Associated Genes
- POLG
- Associated Variants
-
POLG p.Pro1073Leu (p.P1073L)
(
ENST00000636937.2,
ENST00000442287.6,
ENST00000268124.11 )
POLG p.Pro1073Leu (p.P1073L) ( ENST00000268124.11, ENST00000442287.6, ENST00000636937.2 ) - Associated Disease
- Diffuse Cerebral Sclerosis of Schilder
- Source Database
- DisGeNET
- Description
- The heterozygous presence of the novel p.P1073L mutation in trans with another recessive POLG mutation causes a hepatocerebral disorder identical or very similar to Alpers syndrome.
- Pubmed
- 20142534
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.139507596006318
- Year of publication
- 2010
Drugs