Annotation Detail
Information
- Associated Genes
- ERCC2
- Associated Variants
-
ERCC2 p.Ala725Pro (p.A725P)
(
ENST00000391944.8,
ENST00000391945.10,
ENST00000684407.1 )
ERCC2 p.Arg722Trp (p.R722W) ( ENST00000391944.8, ENST00000391945.10, ENST00000684407.1 )
ERCC2 p.Gly713Arg (p.G713R) ( ENST00000391944.8, ENST00000391945.10, ENST00000684407.1 )
ERCC2 p.Arg658Cys (p.R658C) ( ENST00000391944.8, ENST00000391945.10, ENST00000684407.1 )
ERCC2 p.Leu461Val (p.L461V) ( ENST00000391944.8, ENST00000391945.10, ENST00000684407.1 )
ERCC2 p.Arg112His (p.R112H) ( ENST00000391944.8, ENST00000485403.6, ENST00000391945.10, ENST00000684407.1 )
ERCC2 p.Ala725Pro (p.A725P) ( ENST00000391944.8, ENST00000391945.10, ENST00000684407.1 )
ERCC2 p.Arg722Trp (p.R722W) ( ENST00000391944.8, ENST00000391945.10, ENST00000684407.1 )
ERCC2 p.Gly713Arg (p.G713R) ( ENST00000391944.8, ENST00000391945.10, ENST00000684407.1 )
ERCC2 p.Arg658Cys (p.R658C) ( ENST00000391944.8, ENST00000391945.10, ENST00000684407.1 )
ERCC2 p.Leu461Val (p.L461V) ( ENST00000391944.8, ENST00000391945.10, ENST00000684407.1 )
ERCC2 p.Arg112His (p.R112H) ( ENST00000391944.8, ENST00000391945.10, ENST00000485403.6, ENST00000684407.1 ) - Associated Disease
- photosensitive trichothiodystrophy
- Source Database
- DisGeNET
- Description
- NA
- Original source reporting the Gene Disease association
- CLINVAR
- DisGENET score for the Gene Disease association
- 0.44
- Year of publication
- NA
Drugs