Annotation Detail
Information
- Associated Genes
- TP63
- Associated Variants
-
TP63 p.Arg243Gln (p.R243Q)
(
ENST00000392461.7,
ENST00000392463.6,
ENST00000264731.8,
ENST00000320472.9,
ENST00000354600.10,
ENST00000418709.6,
ENST00000437221.5,
ENST00000440651.6,
ENST00000449992.5,
ENST00000456148.1,
ENST00000392460.7 )
TP63 p.Arg243Gln (p.R243Q) ( ENST00000264731.8, ENST00000320472.9, ENST00000354600.10, ENST00000392460.7, ENST00000392461.7, ENST00000392463.6, ENST00000418709.6, ENST00000437221.5, ENST00000440651.6, ENST00000449992.5, ENST00000456148.1 ) - Associated Disease
- Rudiger syndrome 1
- Source Database
- DisGeNET
- Description
- Of the six cases/families now reported with EEC syndrome and Arg227Gln TP63 mutation, four have manifested this distinct urological abnormality, indicative of a genotype-phenotype correlation.
- Pubmed
- 17431922
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.246786046802008
- Year of publication
- 2007
Drugs