Annotation Detail
Information
- Associated Genes
- PTPN11
- Associated Variants
-
PTPN11 p.Gln514Lys (p.Q514K)
(
ENST00000351677.7,
ENST00000635625.1,
ENST00000639857.2,
ENST00000687906.1,
ENST00000688597.1,
ENST00000690210.1 )
PTPN11 p.Gln514Glu (p.Q514E) ( ENST00000351677.7, ENST00000635625.1, ENST00000639857.2, ENST00000687906.1, ENST00000688597.1, ENST00000690210.1 )
PTPN11 p.Gln514Lys (p.Q514K) ( ENST00000351677.7, ENST00000635625.1, ENST00000639857.2, ENST00000687906.1, ENST00000688597.1, ENST00000690210.1 )
PTPN11 p.Gln514Glu (p.Q514E) ( ENST00000351677.7, ENST00000635625.1, ENST00000639857.2, ENST00000687906.1, ENST00000688597.1, ENST00000690210.1 ) - Associated Disease
- LEOPARD Syndrome
- Source Database
- DisGeNET
- Description
- In the boy, progressive HCM was diagnosed during the first week of life and a diagnosis of NSML was established at age 20 weeks by showing a heterozygous Q510E mutation in PTPN11.
- Pubmed
- 25708222
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.479558075756796
- Year of publication
- 2015
Drugs