Annotation Detail
Information
- Associated Genes
- DCX
- Associated Variants
-
DCX p.Arg196His (p.R196H)
(
ENST00000358070.10,
ENST00000356220.8,
ENST00000488120.2,
ENST00000496551.2,
ENST00000371993.7,
ENST00000635795.1,
ENST00000636035.2,
ENST00000637453.1,
ENST00000637570.1,
ENST00000680476.1 )
DCX p.Arg196His (p.R196H) ( ENST00000356220.8, ENST00000358070.10, ENST00000371993.7, ENST00000488120.2, ENST00000496551.2, ENST00000635795.1, ENST00000636035.2, ENST00000637453.1, ENST00000637570.1, ENST00000680476.1 ) - Associated Disease
- X-Linked Lissencephaly
- Source Database
- DisGeNET
- Description
- Incomplete penetrance with normal MRI in a woman with germline mutation of the DCX gene.
- Pubmed
- 11468322
- Original source reporting the Gene Disease association
- UNIPROT
- DisGENET score for the Gene Disease association
- 0.363528744337044
- Year of publication
- 2001
Drugs