Annotation Detail
Information
- Associated Genes
- TP63
- Associated Variants
-
TP63 p.Leu616SerfsTer88 (p.L616Sfs*88)
(
ENST00000264731.8,
ENST00000320472.9,
ENST00000354600.10,
ENST00000440651.6,
ENST00000449992.5,
ENST00000456148.1 )
TP63 p.Arg655GlufsTer49 (p.R655Efs*49) ( ENST00000264731.8, ENST00000320472.9, ENST00000354600.10, ENST00000440651.6, ENST00000449992.5, ENST00000456148.1 )
TP63 p.Leu616SerfsTer88 (p.L616Sfs*88) ( ENST00000264731.8, ENST00000320472.9, ENST00000354600.10, ENST00000440651.6, ENST00000449992.5, ENST00000456148.1 )
TP63 p.Arg655GlufsTer49 (p.R655Efs*49) ( ENST00000264731.8, ENST00000320472.9, ENST00000354600.10, ENST00000440651.6, ENST00000449992.5, ENST00000456148.1 )
TP63 c.325-18456A>C ( ENST00000264731.8, ENST00000320472.9, ENST00000354600.10, ENST00000392460.7, ENST00000392461.7, ENST00000392463.6, ENST00000418709.6, ENST00000437221.5, ENST00000440651.6, ENST00000449992.5, ENST00000456148.1 )
TP63 p.Gly173Asp (p.G173D) ( ENST00000264731.8, ENST00000320472.9, ENST00000354600.10, ENST00000392460.7, ENST00000392461.7, ENST00000392463.6, ENST00000418709.6, ENST00000437221.5, ENST00000440651.6, ENST00000449992.5, ENST00000456148.1 )
TP63 p.Arg266Gln (p.R266Q) ( ENST00000264731.8, ENST00000320472.9, ENST00000354600.10, ENST00000392460.7, ENST00000392463.6, ENST00000392461.7, ENST00000418709.6, ENST00000437221.5, ENST00000440651.6, ENST00000449992.5, ENST00000456148.1 )
TP63 p.Arg337Gly (p.R337G) ( ENST00000264731.8, ENST00000320472.9, ENST00000354600.10, ENST00000392460.7, ENST00000392461.7, ENST00000392463.6, ENST00000418709.6, ENST00000437221.5, ENST00000440651.6, ENST00000449992.5, ENST00000456148.1 )
TP63 p.Arg337Gln (p.R337Q) ( ENST00000264731.8, ENST00000320472.9, ENST00000354600.10, ENST00000392460.7, ENST00000392461.7, ENST00000392463.6, ENST00000418709.6, ENST00000437221.5, ENST00000440651.6, ENST00000449992.5, ENST00000456148.1 )
TP63 p.Arg352Gly (p.R352G) ( ENST00000264731.8, ENST00000320472.9, ENST00000354600.10, ENST00000392460.7, ENST00000392461.7, ENST00000392463.6, ENST00000418709.6, ENST00000437221.5, ENST00000440651.6, ENST00000449992.5, ENST00000456148.1 )
TP63 c.325-18456A>C ( ENST00000264731.8, ENST00000320472.9, ENST00000354600.10, ENST00000392460.7, ENST00000392461.7, ENST00000392463.6, ENST00000418709.6, ENST00000437221.5, ENST00000440651.6, ENST00000449992.5, ENST00000456148.1 )
TP63 p.Gly173Asp (p.G173D) ( ENST00000264731.8, ENST00000320472.9, ENST00000354600.10, ENST00000392460.7, ENST00000392461.7, ENST00000392463.6, ENST00000418709.6, ENST00000437221.5, ENST00000440651.6, ENST00000449992.5, ENST00000456148.1 )
TP63 p.Arg266Gln (p.R266Q) ( ENST00000264731.8, ENST00000320472.9, ENST00000354600.10, ENST00000392460.7, ENST00000392461.7, ENST00000392463.6, ENST00000418709.6, ENST00000437221.5, ENST00000440651.6, ENST00000449992.5, ENST00000456148.1 )
TP63 p.Arg337Gly (p.R337G) ( ENST00000264731.8, ENST00000320472.9, ENST00000354600.10, ENST00000392460.7, ENST00000392461.7, ENST00000392463.6, ENST00000418709.6, ENST00000437221.5, ENST00000440651.6, ENST00000449992.5, ENST00000456148.1 )
TP63 p.Arg337Gln (p.R337Q) ( ENST00000264731.8, ENST00000320472.9, ENST00000354600.10, ENST00000392460.7, ENST00000392461.7, ENST00000392463.6, ENST00000418709.6, ENST00000437221.5, ENST00000440651.6, ENST00000449992.5, ENST00000456148.1 )
TP63 p.Arg352Gly (p.R352G) ( ENST00000264731.8, ENST00000320472.9, ENST00000354600.10, ENST00000392460.7, ENST00000392461.7, ENST00000392463.6, ENST00000418709.6, ENST00000437221.5, ENST00000440651.6, ENST00000449992.5, ENST00000456148.1 ) - Associated Disease
- ADULT syndrome
- Source Database
- DisGeNET
- Description
- NA
- Original source reporting the Gene Disease association
- CLINVAR
- DisGENET score for the Gene Disease association
- 0.483257302464964
- Year of publication
- NA
Drugs