Annotation Detail
Information
- Associated Genes
- PTPN11
- Associated Variants
-
PTPN11 p.Phe285Leu (p.F285L)
(
ENST00000351677.7,
ENST00000392597.5,
ENST00000635625.1,
ENST00000639857.2,
ENST00000687906.1,
ENST00000688597.1,
ENST00000690210.1 )
PTPN11 p.Phe285Val (p.F285V) ( ENST00000688597.1, ENST00000392597.5, ENST00000690210.1, ENST00000639857.2, ENST00000635625.1, ENST00000687906.1, ENST00000351677.7 )
PTPN11 p.Phe285Leu (p.F285L) ( ENST00000687906.1, ENST00000351677.7, ENST00000392597.5, ENST00000688597.1, ENST00000635625.1, ENST00000639857.2, ENST00000690210.1 )
PTPN11 p.Phe285Leu (p.F285L) ( ENST00000351677.7, ENST00000392597.5, ENST00000635625.1, ENST00000639857.2, ENST00000687906.1, ENST00000688597.1, ENST00000690210.1 )
PTPN11 p.Phe285Val (p.F285V) ( ENST00000351677.7, ENST00000392597.5, ENST00000635625.1, ENST00000639857.2, ENST00000687906.1, ENST00000688597.1, ENST00000690210.1 )
PTPN11 p.Phe285Leu (p.F285L) ( ENST00000351677.7, ENST00000392597.5, ENST00000635625.1, ENST00000639857.2, ENST00000687906.1, ENST00000688597.1, ENST00000690210.1 ) - Associated Disease
- Exanthema
- Source Database
- DisGeNET
- Description
- We suggest that the atypical severe symptoms in the index patient may be caused by an additive effect on the F285L mutation in PTPN11 by another mutation, for example the NF1 R1809C or alternatively, the not yet identified gene mutation associated with CAL spots in this family.
- Pubmed
- 19120036
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.00108576748832121
- Year of publication
- 2009
Drugs