Annotation Detail
Information
- Associated Genes
- ERCC2
- Associated Variants
-
ERCC2 p.Arg722Trp (p.R722W)
(
ENST00000391944.8,
ENST00000391945.10,
ENST00000684407.1 )
ERCC2 p.Arg722Trp (p.R722W) ( ENST00000391944.8, ENST00000391945.10, ENST00000684407.1 ) - Associated Disease
- Trichothiodystrophy Syndromes
- Source Database
- DisGeNET
- Description
- Patient TTD24PV was compound heterozygous for a typical TTD allele (c.2164C>T, p.Arg722Trp) and for a new XPD allele with a mutation that partially affects intron 10 splicing, resulting in both mutated and normal XPD transcripts (that together represent 15% of the total XPD mRNA).
- Pubmed
- 19085937
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.1379151635573
- Year of publication
- 2009
Drugs