Annotation Detail
Information
- Associated Genes
- POLG
- Associated Variants
-
POLG p.Pro587Leu (p.P587L)
(
ENST00000442287.6,
ENST00000636937.2,
ENST00000268124.11 )
POLG p.Pro587Leu (p.P587L) ( ENST00000268124.11, ENST00000442287.6, ENST00000636937.2 ) - Associated Disease
- Leukoencephalopathies
- Source Database
- DisGeNET
- Description
- We report a recessive family with features of MNGIE but no leukoencephalopathy in which two patients carry three missense mutations in POLG, of which two are novel mutations (N846S and P587L).
- Pubmed
- 12825077
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.000542883744160607
- Year of publication
- 2003
Drugs