Annotation Detail
Information
- Associated Genes
- PTPN11
- Associated Variants
-
PTPN11 p.Thr2Ile (p.T2I)
(
ENST00000687906.1,
ENST00000351677.7,
ENST00000392597.5,
ENST00000688597.1,
ENST00000639857.2,
ENST00000635625.1,
ENST00000690210.1 )
PTPN11 p.Thr2Ile (p.T2I) ( ENST00000351677.7, ENST00000392597.5, ENST00000635625.1, ENST00000639857.2, ENST00000687906.1, ENST00000688597.1, ENST00000690210.1 ) - Associated Disease
- Spots on skin
- Source Database
- DisGeNET
- Description
- The patient was found to carry a de novo PTPN11 mutation p.T2I as well as the maternally inherited NF1 mutation c.4661+1G>C. Her otherwise healthy mother and brother, who also had the NF1 mutation, showed few café-au-lait spots as the only sign of neurofibromatosis.
- Pubmed
- 19449407
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.00108576748832121
- Year of publication
- 2009
Drugs