Annotation Detail
Information
- Associated Genes
- PTPN11
- Associated Variants
-
PTPN11 p.Gln514Pro (p.Q514P)
(
ENST00000690210.1,
ENST00000639857.2,
ENST00000635625.1,
ENST00000688597.1,
ENST00000351677.7,
ENST00000687906.1 )
PTPN11 p.Gln514Arg (p.Q514R) ( ENST00000688597.1, ENST00000690210.1, ENST00000635625.1, ENST00000639857.2, ENST00000687906.1, ENST00000351677.7 )
PTPN11 p.Gln514Pro (p.Q514P) ( ENST00000351677.7, ENST00000635625.1, ENST00000639857.2, ENST00000687906.1, ENST00000688597.1, ENST00000690210.1 )
PTPN11 p.Gln514Arg (p.Q514R) ( ENST00000351677.7, ENST00000635625.1, ENST00000639857.2, ENST00000687906.1, ENST00000688597.1, ENST00000690210.1 ) - Associated Disease
- LEOPARD Syndrome
- Source Database
- DisGeNET
- Description
- Exome sequencing revealed a pathogenic de novo germline variant in the PTPN11 gene (c.1529A>G; p.(Gln510Arg)), which has so far been associated with Noonan, as well as LEOPARD syndrome.
- Pubmed
- 24939587
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.479558075756796
- Year of publication
- 2014
Drugs