Annotation Detail
Information
- Associated Genes
- XPC
- Associated Variants
-
XPC p.Pro334Leu (p.P334L)
(
ENST00000285021.12 )
XPC p.Pro334Arg (p.P334R) ( ENST00000285021.12 )
XPC p.Pro334His (p.P334H) ( ENST00000285021.12 )
XPC p.Pro334Leu (p.P334L) ( ENST00000285021.12 )
XPC p.Pro334Arg (p.P334R) ( ENST00000285021.12 )
XPC p.Pro334His (p.P334H) ( ENST00000285021.12 ) - Associated Disease
- XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C
- Source Database
- DisGeNET
- Description
- These results extend our previous observations and indicate that defects in XPCC cause Xeroderma pigmentosum group C.
- Pubmed
- 8298653
- Original source reporting the Gene Disease association
- UNIPROT
- DisGENET score for the Gene Disease association
- 0.56895758177865
- Year of publication
- 1993
Drugs