Annotation Detail
Information
- Associated Genes
- XPC
- Associated Variants
-
XPC p.Asn754LysfsTer13 (p.N754Kfs*13)
(
ENST00000285021.12 )
XPC p.Val548AlafsTer25 (p.V548Afs*25) ( ENST00000285021.12 )
XPC p.Lys431ArgfsTer6 (p.K431Rfs*6) ( ENST00000285021.12 )
XPC p.Tyr189SerfsTer10 (p.Y189Sfs*10) ( ENST00000285021.12 )
XPC p.Asn754LysfsTer13 (p.N754Kfs*13) ( ENST00000285021.12 )
XPC p.Val548AlafsTer25 (p.V548Afs*25) ( ENST00000285021.12 )
XPC p.Lys431ArgfsTer6 (p.K431Rfs*6) ( ENST00000285021.12 )
XPC p.Tyr189SerfsTer10 (p.Y189Sfs*10) ( ENST00000285021.12 )
XPC c.2251-1G>C ( ENST00000285021.12 )
XPC c.2251-1G>A ( ENST00000285021.12 )
XPC c.2033+2T>G ( ENST00000285021.12 )
XPC p.Arg579Ter (p.R579*) ( ENST00000285021.12 )
XPC p.Tyr559= (p.Y559=) ( ENST00000285021.12 )
XPC p.Tyr559Ter (p.Y559*) ( ENST00000285021.12 )
XPC p.Tyr559Ter (p.Y559*) ( ENST00000285021.12 )
XPC p.Pro334Leu (p.P334L) ( ENST00000285021.12 )
XPC p.Pro334Arg (p.P334R) ( ENST00000285021.12 )
XPC p.Pro334His (p.P334H) ( ENST00000285021.12 )
XPC c.622-2A>C ( ENST00000285021.12 )
XPC c.413-9T>A ( ENST00000285021.12 )
XPC c.413-24A>G ( ENST00000285021.12 )
XPC c.2251-1G>C ( ENST00000285021.12 )
XPC c.2251-1G>A ( ENST00000285021.12 )
XPC c.2033+2T>G ( ENST00000285021.12 )
XPC p.Arg579Ter (p.R579*) ( ENST00000285021.12 )
XPC p.Tyr559= (p.Y559=) ( ENST00000285021.12 )
XPC p.Tyr559Ter (p.Y559*) ( ENST00000285021.12 )
XPC p.Tyr559Ter (p.Y559*) ( ENST00000285021.12 )
XPC p.Pro334Leu (p.P334L) ( ENST00000285021.12 )
XPC p.Pro334Arg (p.P334R) ( ENST00000285021.12 )
XPC p.Pro334His (p.P334H) ( ENST00000285021.12 )
XPC c.622-2A>C ( ENST00000285021.12 )
XPC c.413-9T>A ( ENST00000285021.12 )
XPC c.413-24A>G ( ENST00000285021.12 ) - Associated Disease
- XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C
- Source Database
- DisGeNET
- Description
- NA
- Original source reporting the Gene Disease association
- CLINVAR
- DisGENET score for the Gene Disease association
- 0.56895758177865
- Year of publication
- NA
Drugs