Annotation Detail
Information
- Associated Genes
- POLG
- Associated Variants
-
POLG p.Ala467Thr (p.A467T)
(
ENST00000268124.11,
ENST00000636937.2,
ENST00000442287.6 )
POLG p.Ala467Thr (p.A467T) ( ENST00000268124.11, ENST00000442287.6, ENST00000636937.2 ) - Associated Disease
- Alpers Syndrome (disorder)
- Source Database
- DisGeNET
- Description
- We describe a 3.5-year-old female with Alpers disease with a POLG genotype of p.A467T/p.G848S and with a lethal outcome.
- Pubmed
- 19766516
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.48868613990657
- Year of publication
- 2010
Drugs