Annotation Detail
Information
- Associated Genes
- PTPN11
- Associated Variants
-
PTPN11 p.Asp61Asn (p.D61N)
(
ENST00000351677.7,
ENST00000392597.5,
ENST00000635625.1,
ENST00000639857.2,
ENST00000687906.1,
ENST00000688597.1,
ENST00000690210.1 )
PTPN11 p.Asp61His (p.D61H) ( ENST00000351677.7, ENST00000392597.5, ENST00000635625.1, ENST00000639857.2, ENST00000687906.1, ENST00000688597.1, ENST00000690210.1 )
PTPN11 p.Asp61Ala (p.D61A) ( ENST00000687906.1, ENST00000351677.7, ENST00000688597.1, ENST00000392597.5, ENST00000690210.1, ENST00000639857.2, ENST00000635625.1 )
PTPN11 p.Asp61Gly (p.D61G) ( ENST00000351677.7, ENST00000392597.5, ENST00000635625.1, ENST00000639857.2, ENST00000687906.1, ENST00000688597.1, ENST00000690210.1 )
PTPN11 p.Asp61Val (p.D61V) ( ENST00000351677.7, ENST00000392597.5, ENST00000635625.1, ENST00000639857.2, ENST00000687906.1, ENST00000688597.1, ENST00000690210.1 )
PTPN11 p.Tyr62Asn (p.Y62N) ( ENST00000688597.1, ENST00000392597.5, ENST00000690210.1, ENST00000639857.2, ENST00000635625.1, ENST00000687906.1, ENST00000351677.7 )
PTPN11 p.Tyr62Asp (p.Y62D) ( ENST00000351677.7, ENST00000392597.5, ENST00000688597.1, ENST00000690210.1, ENST00000635625.1, ENST00000639857.2, ENST00000687906.1 )
PTPN11 p.Ala72Gly (p.A72G) ( ENST00000688597.1, ENST00000635625.1, ENST00000687906.1, ENST00000351677.7, ENST00000392597.5, ENST00000639857.2, ENST00000690210.1 )
PTPN11 p.Ala72Val (p.A72V) ( ENST00000351677.7, ENST00000392597.5, ENST00000635625.1, ENST00000639857.2, ENST00000687906.1, ENST00000688597.1, ENST00000690210.1 )
PTPN11 p.Thr73Ile (p.T73I) ( ENST00000351677.7, ENST00000392597.5, ENST00000635625.1, ENST00000639857.2, ENST00000687906.1, ENST00000688597.1, ENST00000690210.1 )
PTPN11 p.Glu76Lys (p.E76K) ( ENST00000392597.5, ENST00000351677.7, ENST00000635625.1, ENST00000639857.2, ENST00000687906.1, ENST00000688597.1, ENST00000690210.1 )
PTPN11 p.Glu76Gln (p.E76Q) ( ENST00000351677.7, ENST00000392597.5, ENST00000635625.1, ENST00000639857.2, ENST00000690210.1, ENST00000687906.1, ENST00000688597.1 )
PTPN11 p.Glu76Ala (p.E76A) ( ENST00000690210.1, ENST00000639857.2, ENST00000635625.1, ENST00000688597.1, ENST00000392597.5, ENST00000351677.7, ENST00000687906.1 )
PTPN11 p.Glu76Gly (p.E76G) ( ENST00000688597.1, ENST00000690210.1, ENST00000351677.7, ENST00000392597.5, ENST00000635625.1, ENST00000639857.2, ENST00000687906.1 )
PTPN11 p.Glu76Val (p.E76V) ( ENST00000351677.7, ENST00000392597.5, ENST00000635625.1, ENST00000639857.2, ENST00000687906.1, ENST00000688597.1, ENST00000690210.1 )
PTPN11 p.Glu139Asp (p.E139D) ( ENST00000392597.5, ENST00000351677.7, ENST00000635625.1, ENST00000639857.2, ENST00000687906.1, ENST00000688597.1, ENST00000690210.1 )
PTPN11 p.Glu139Asp (p.E139D) ( ENST00000351677.7, ENST00000687906.1, ENST00000690210.1, ENST00000635625.1, ENST00000639857.2, ENST00000688597.1, ENST00000392597.5 )
PTPN11 p.Ser506Thr (p.S506T) ( ENST00000351677.7, ENST00000635625.1, ENST00000639857.2, ENST00000687906.1, ENST00000688597.1, ENST00000690210.1 )
PTPN11 p.Ser506Ala (p.S506A) ( ENST00000351677.7, ENST00000635625.1, ENST00000639857.2, ENST00000687906.1, ENST00000688597.1, ENST00000690210.1 )
PTPN11 p.Gly507Arg (p.G507R) ( ENST00000351677.7, ENST00000635625.1, ENST00000639857.2, ENST00000687906.1, ENST00000688597.1, ENST00000690210.1 )
PTPN11 p.Gly507Arg (p.G507R) ( 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.Asp61Asn (p.D61N) ( ENST00000690210.1, ENST00000351677.7, ENST00000392597.5, ENST00000635625.1, ENST00000639857.2, ENST00000687906.1, ENST00000688597.1 )
PTPN11 p.Asp61His (p.D61H) ( ENST00000351677.7, ENST00000392597.5, ENST00000635625.1, ENST00000639857.2, ENST00000687906.1, ENST00000688597.1, ENST00000690210.1 )
PTPN11 p.Asp61Ala (p.D61A) ( ENST00000351677.7, ENST00000392597.5, ENST00000635625.1, ENST00000639857.2, ENST00000687906.1, ENST00000688597.1, ENST00000690210.1 )
PTPN11 p.Asp61Gly (p.D61G) ( ENST00000351677.7, ENST00000392597.5, ENST00000635625.1, ENST00000639857.2, ENST00000687906.1, ENST00000688597.1, ENST00000690210.1 )
PTPN11 p.Asp61Val (p.D61V) ( ENST00000351677.7, ENST00000635625.1, ENST00000639857.2, ENST00000392597.5, ENST00000687906.1, ENST00000688597.1, ENST00000690210.1 )
PTPN11 p.Tyr62Asn (p.Y62N) ( ENST00000351677.7, ENST00000392597.5, ENST00000635625.1, ENST00000639857.2, ENST00000687906.1, ENST00000688597.1, ENST00000690210.1 )
PTPN11 p.Tyr62Asp (p.Y62D) ( ENST00000351677.7, ENST00000392597.5, ENST00000635625.1, ENST00000639857.2, ENST00000687906.1, ENST00000688597.1, ENST00000690210.1 )
PTPN11 p.Ala72Gly (p.A72G) ( ENST00000690210.1, ENST00000688597.1, ENST00000351677.7, ENST00000392597.5, ENST00000635625.1, ENST00000639857.2, ENST00000687906.1 )
PTPN11 p.Ala72Val (p.A72V) ( ENST00000351677.7, ENST00000392597.5, ENST00000635625.1, ENST00000639857.2, ENST00000687906.1, ENST00000688597.1, ENST00000690210.1 )
PTPN11 p.Thr73Ile (p.T73I) ( ENST00000351677.7, ENST00000392597.5, ENST00000635625.1, ENST00000639857.2, ENST00000687906.1, ENST00000688597.1, ENST00000690210.1 )
PTPN11 p.Glu76Lys (p.E76K) ( ENST00000351677.7, ENST00000392597.5, ENST00000635625.1, ENST00000639857.2, ENST00000687906.1, ENST00000688597.1, ENST00000690210.1 )
PTPN11 p.Glu76Gln (p.E76Q) ( ENST00000351677.7, ENST00000392597.5, ENST00000635625.1, ENST00000639857.2, ENST00000687906.1, ENST00000688597.1, ENST00000690210.1 )
PTPN11 p.Glu76Ala (p.E76A) ( ENST00000351677.7, ENST00000392597.5, ENST00000635625.1, ENST00000639857.2, ENST00000687906.1, ENST00000688597.1, ENST00000690210.1 )
PTPN11 p.Glu76Gly (p.E76G) ( ENST00000351677.7, ENST00000392597.5, ENST00000635625.1, ENST00000639857.2, ENST00000687906.1, ENST00000688597.1, ENST00000690210.1 )
PTPN11 p.Glu76Val (p.E76V) ( ENST00000351677.7, ENST00000392597.5, ENST00000635625.1, ENST00000639857.2, ENST00000687906.1, ENST00000688597.1, ENST00000690210.1 )
PTPN11 p.Glu139Asp (p.E139D) ( ENST00000351677.7, ENST00000392597.5, ENST00000635625.1, ENST00000639857.2, ENST00000687906.1, ENST00000688597.1, ENST00000690210.1 )
PTPN11 p.Glu139Asp (p.E139D) ( ENST00000351677.7, ENST00000392597.5, ENST00000635625.1, ENST00000639857.2, ENST00000687906.1, ENST00000688597.1, ENST00000690210.1 )
PTPN11 p.Ser506Thr (p.S506T) ( ENST00000351677.7, ENST00000635625.1, ENST00000688597.1, ENST00000690210.1, ENST00000639857.2, ENST00000687906.1 )
PTPN11 p.Ser506Ala (p.S506A) ( ENST00000351677.7, ENST00000635625.1, ENST00000639857.2, ENST00000687906.1, ENST00000688597.1, ENST00000690210.1 )
PTPN11 p.Gly507Arg (p.G507R) ( ENST00000351677.7, ENST00000635625.1, ENST00000639857.2, ENST00000687906.1, ENST00000688597.1, ENST00000690210.1 )
PTPN11 p.Gly507Arg (p.G507R) ( ENST00000351677.7, ENST00000635625.1, ENST00000639857.2, ENST00000687906.1, ENST00000688597.1, ENST00000690210.1 )
PTPN11 p.Gln510Pro (p.Q510P) ( ENST00000351677.7, ENST00000635625.1, ENST00000639857.2, ENST00000687906.1, ENST00000688597.1, ENST00000690210.1 ) - Associated Disease
- juvenile myelomonocytic leukemia
- Source Database
- DisGeNET
- Description
- NA
- Original source reporting the Gene Disease association
- CLINVAR
- DisGENET score for the Gene Disease association
- 0.582212083205456
- Year of publication
- NA
Drugs