Annotation Detail
Information
- Associated Genes
- PTPN11
- Associated Variants
-
PTPN11 p.Gln510Pro (p.Q510P)
(
ENST00000687906.1,
ENST00000351677.7,
ENST00000688597.1,
ENST00000690210.1,
ENST00000635625.1,
ENST00000639857.2 )
PTPN11 p.Gln510Pro (p.Q510P) ( ENST00000351677.7, ENST00000635625.1, ENST00000639857.2, ENST00000687906.1, ENST00000688597.1, ENST00000690210.1 )
PTPN11 p.Gln510Pro (p.Q510P) ( ENST00000635625.1, ENST00000688597.1, ENST00000351677.7, ENST00000687906.1, ENST00000690210.1, ENST00000639857.2 )
PTPN11 p.Gln510Pro (p.Q510P) ( ENST00000351677.7, ENST00000635625.1, ENST00000639857.2, ENST00000687906.1, ENST00000688597.1, ENST00000690210.1 ) - Associated Disease
- Noonan syndrome
- Source Database
- DisGeNET
- Description
- We report on a 26-year-old female with features of Noonan syndrome-Multiple Lentigines and a heterozygous mutation: c.1517A > C-p.Gln506Pro in the PTPN11 gene.
- Pubmed
- 22528600
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.694446819376149
- Year of publication
- 2012
Drugs