Annotation Detail
Information
- Associated Genes
- PTPN11
- Associated Variants
-
PTPN11 p.Gly60del (p.G60del)
(
ENST00000351677.7,
ENST00000392597.5,
ENST00000635625.1,
ENST00000639857.2,
ENST00000687906.1,
ENST00000688597.1,
ENST00000690210.1 )
PTPN11 p.Gly60del (p.G60del) ( ENST00000351677.7, ENST00000392597.5, ENST00000635625.1, ENST00000639857.2, ENST00000687906.1, ENST00000688597.1, ENST00000690210.1 )
PTPN11 p.Thr73Leu (p.T73L) ( ENST00000688597.1, ENST00000392597.5, ENST00000690210.1, ENST00000639857.2, ENST00000635625.1, ENST00000687906.1, ENST00000351677.7 )
PTPN11 p.Thr73Leu (p.T73L) ( ENST00000351677.7, ENST00000392597.5, ENST00000635625.1, ENST00000639857.2, ENST00000687906.1, ENST00000688597.1, ENST00000690210.1 )
PTPN11 p.Thr2Ile (p.T2I) ( ENST00000687906.1, ENST00000351677.7, ENST00000392597.5, ENST00000688597.1, ENST00000639857.2, ENST00000635625.1, ENST00000690210.1 )
PTPN11 p.Thr42Ala (p.T42A) ( ENST00000351677.7, ENST00000392597.5, ENST00000635625.1, ENST00000639857.2, ENST00000687906.1, ENST00000688597.1, ENST00000690210.1 )
PTPN11 p.Thr52Ile (p.T52I) ( ENST00000351677.7, ENST00000392597.5, ENST00000635625.1, ENST00000639857.2, ENST00000687906.1, ENST00000688597.1, ENST00000690210.1 )
PTPN11 p.Asn58His (p.N58H) ( ENST00000687906.1, ENST00000351677.7, ENST00000688597.1, ENST00000392597.5, ENST00000690210.1, ENST00000639857.2, ENST00000635625.1 )
PTPN11 p.Asn58Asp (p.N58D) ( ENST00000351677.7, ENST00000392597.5, ENST00000635625.1, ENST00000639857.2, ENST00000687906.1, ENST00000688597.1, ENST00000690210.1 )
PTPN11 p.Asn58Tyr (p.N58Y) ( ENST00000351677.7, ENST00000687906.1, ENST00000690210.1, ENST00000639857.2, ENST00000635625.1, ENST00000688597.1, ENST00000392597.5 )
PTPN11 p.Asn58Lys (p.N58K) ( ENST00000690210.1, ENST00000635625.1, ENST00000639857.2, ENST00000392597.5, ENST00000688597.1, ENST00000351677.7, ENST00000687906.1 )
PTPN11 p.Asn58Lys (p.N58K) ( ENST00000392597.5, ENST00000688597.1, ENST00000639857.2, ENST00000635625.1, ENST00000690210.1, ENST00000687906.1, ENST00000351677.7 )
PTPN11 p.Gly60Ser (p.G60S) ( ENST00000690210.1, ENST00000635625.1, ENST00000639857.2, ENST00000688597.1, ENST00000392597.5, ENST00000351677.7, ENST00000687906.1 )
PTPN11 p.Gly60Cys (p.G60C) ( ENST00000351677.7, ENST00000687906.1, ENST00000639857.2, ENST00000635625.1, ENST00000690210.1, ENST00000392597.5, ENST00000688597.1 )
PTPN11 p.Gly60Ala (p.G60A) ( ENST00000690210.1, ENST00000392597.5, ENST00000351677.7, ENST00000687906.1, ENST00000639857.2, ENST00000635625.1, ENST00000688597.1 )
PTPN11 p.Gly60Val (p.G60V) ( ENST00000351677.7, ENST00000392597.5, ENST00000635625.1, ENST00000639857.2, ENST00000687906.1, ENST00000688597.1, ENST00000690210.1 )
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.Tyr63Cys (p.Y63C) ( ENST00000351677.7, ENST00000392597.5, ENST00000635625.1, ENST00000639857.2, ENST00000687906.1, ENST00000688597.1, ENST00000690210.1 )
PTPN11 p.Glu69Gln (p.E69Q) ( ENST00000687906.1, ENST00000635625.1, ENST00000690210.1, ENST00000351677.7, ENST00000392597.5, ENST00000688597.1, ENST00000639857.2 )
PTPN11 p.Lys70Arg (p.K70R) ( ENST00000351677.7, ENST00000687906.1, ENST00000690210.1, ENST00000635625.1, ENST00000639857.2, ENST00000688597.1, ENST00000392597.5 )
PTPN11 p.Phe71Leu (p.F71L) ( ENST00000687906.1, ENST00000351677.7, ENST00000392597.5, ENST00000688597.1, ENST00000639857.2, ENST00000635625.1, ENST00000690210.1 )
PTPN11 p.Phe71Val (p.F71V) ( ENST00000351677.7, ENST00000687906.1, ENST00000690210.1, ENST00000635625.1, ENST00000639857.2, ENST00000688597.1, ENST00000392597.5 )
PTPN11 p.Ala72Thr (p.A72T) ( ENST00000351677.7, ENST00000392597.5, ENST00000635625.1, ENST00000639857.2, ENST00000687906.1, ENST00000688597.1, ENST00000690210.1 )
PTPN11 p.Ala72Pro (p.A72P) ( ENST00000690210.1, ENST00000635625.1, ENST00000639857.2, ENST00000688597.1, ENST00000392597.5, ENST00000351677.7, ENST00000687906.1 )
PTPN11 p.Ala72Ser (p.A72S) ( ENST00000351677.7, ENST00000392597.5, ENST00000635625.1, ENST00000639857.2, ENST00000687906.1, ENST00000688597.1, ENST00000690210.1 )
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.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.Glu76Asp (p.E76D) ( ENST00000687906.1, ENST00000351677.7, ENST00000392597.5, ENST00000688597.1, ENST00000639857.2, ENST00000635625.1, ENST00000690210.1 )
PTPN11 p.Glu76Asp (p.E76D) ( ENST00000687906.1, ENST00000351677.7, ENST00000688597.1, ENST00000392597.5, ENST00000690210.1, ENST00000639857.2, ENST00000635625.1 )
PTPN11 p.Gln79Lys (p.Q79K) ( ENST00000687906.1, ENST00000351677.7, ENST00000688597.1, ENST00000392597.5, ENST00000690210.1, ENST00000635625.1, ENST00000639857.2 )
PTPN11 p.Gln79Arg (p.Q79R) ( ENST00000351677.7, ENST00000392597.5, ENST00000635625.1, ENST00000639857.2, ENST00000687906.1, ENST00000688597.1, ENST00000690210.1 )
PTPN11 p.Asp106Ala (p.D106A) ( ENST00000351677.7, ENST00000392597.5, ENST00000635625.1, ENST00000639857.2, ENST00000687906.1, ENST00000688597.1, ENST00000690210.1 )
PTPN11 p.Glu110Lys (p.E110K) ( ENST00000351677.7, ENST00000687906.1, ENST00000635625.1, ENST00000639857.2, ENST00000690210.1, ENST00000392597.5, ENST00000688597.1 )
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.Asn200Tyr (p.N200Y) ( ENST00000687906.1, ENST00000351677.7, ENST00000688597.1, ENST00000392597.5, ENST00000690210.1, ENST00000635625.1, ENST00000639857.2 )
PTPN11 p.Gln256Arg (p.Q256R) ( ENST00000392597.5, ENST00000688597.1, ENST00000639857.2, ENST00000635625.1, ENST00000690210.1, ENST00000687906.1, ENST00000351677.7 )
PTPN11 p.Glu258Asp (p.E258D) ( ENST00000690210.1, ENST00000639857.2, ENST00000635625.1, ENST00000688597.1, ENST00000392597.5, ENST00000351677.7, ENST00000687906.1 )
PTPN11 p.Leu261Phe (p.L261F) ( ENST00000687906.1, ENST00000351677.7, ENST00000688597.1, ENST00000392597.5, ENST00000690210.1, ENST00000635625.1, ENST00000639857.2 )
PTPN11 p.Leu262His (p.L262H) ( ENST00000687906.1, ENST00000351677.7, ENST00000688597.1, ENST00000392597.5, ENST00000690210.1, ENST00000635625.1, ENST00000639857.2 )
PTPN11 p.Leu262Arg (p.L262R) ( ENST00000690210.1, ENST00000635625.1, ENST00000639857.2, ENST00000688597.1, ENST00000392597.5, ENST00000351677.7, ENST00000687906.1 )
PTPN11 p.Arg265Gln (p.R265Q) ( ENST00000392597.5, ENST00000688597.1, ENST00000639857.2, ENST00000635625.1, ENST00000687906.1, ENST00000351677.7, ENST00000690210.1 )
PTPN11 p.Gly268Ser (p.G268S) ( ENST00000635625.1, ENST00000688597.1, ENST00000690210.1, ENST00000639857.2, ENST00000392597.5, ENST00000351677.7, ENST00000687906.1 )
PTPN11 p.Gly268Cys (p.G268C) ( ENST00000351677.7, ENST00000392597.5, ENST00000635625.1, ENST00000639857.2, ENST00000687906.1, ENST00000688597.1, ENST00000690210.1 )
PTPN11 p.Tyr279Ser (p.Y279S) ( ENST00000687906.1, ENST00000351677.7, ENST00000392597.5, ENST00000688597.1, ENST00000635625.1, ENST00000639857.2, ENST00000690210.1 )
PTPN11 p.Tyr279Cys (p.Y279C) ( ENST00000351677.7, ENST00000392597.5, ENST00000635625.1, ENST00000639857.2, ENST00000687906.1, ENST00000688597.1, ENST00000690210.1 )
PTPN11 p.Ile282Val (p.I282V) ( ENST00000351677.7, ENST00000392597.5, ENST00000635625.1, ENST00000639857.2, ENST00000687906.1, ENST00000688597.1, ENST00000690210.1 )
PTPN11 p.Ile282Met (p.I282M) ( ENST00000351677.7, ENST00000687906.1, ENST00000690210.1, ENST00000639857.2, ENST00000635625.1, ENST00000688597.1, ENST00000392597.5 )
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.Phe285Tyr (p.F285Y) ( ENST00000635625.1, ENST00000639857.2, ENST00000690210.1, ENST00000392597.5, ENST00000688597.1, ENST00000351677.7, ENST00000687906.1 )
PTPN11 p.Phe285Ser (p.F285S) ( ENST00000351677.7, ENST00000392597.5, ENST00000635625.1, ENST00000639857.2, ENST00000687906.1, ENST00000688597.1, ENST00000690210.1 )
PTPN11 p.Phe285Cys (p.F285C) ( ENST00000687906.1, ENST00000351677.7, ENST00000688597.1, ENST00000392597.5, ENST00000690210.1, ENST00000635625.1, ENST00000639857.2 )
PTPN11 p.Phe285Leu (p.F285L) ( ENST00000687906.1, ENST00000351677.7, ENST00000392597.5, ENST00000688597.1, ENST00000635625.1, ENST00000639857.2, ENST00000690210.1 )
PTPN11 p.Asn308Asp (p.N308D) ( ENST00000351677.7, ENST00000392597.5, ENST00000635625.1, ENST00000639857.2, ENST00000687906.1, ENST00000688597.1, ENST00000690210.1 )
PTPN11 p.Asn308Thr (p.N308T) ( ENST00000687906.1, ENST00000392597.5, ENST00000351677.7, ENST00000690210.1, ENST00000639857.2, ENST00000635625.1, ENST00000688597.1 )
PTPN11 p.Asn308Ser (p.N308S) ( ENST00000351677.7, ENST00000392597.5, ENST00000635625.1, ENST00000639857.2, ENST00000687906.1, ENST00000688597.1, ENST00000690210.1 )
PTPN11 p.Gly413Ala (p.G413A) ( ENST00000687906.1, ENST00000351677.7, ENST00000688597.1, ENST00000392597.5, ENST00000690210.1, ENST00000639857.2, ENST00000635625.1 )
PTPN11 p.Thr415Lys (p.T415K) ( ENST00000351677.7, ENST00000687906.1, ENST00000690210.1, ENST00000635625.1, ENST00000639857.2, ENST00000688597.1, ENST00000392597.5 )
PTPN11 p.Thr415Met (p.T415M) ( ENST00000639857.2, ENST00000635625.1, ENST00000690210.1, ENST00000392597.5, ENST00000688597.1, ENST00000351677.7, ENST00000687906.1 )
PTPN11 p.Ala465Thr (p.A465T) ( ENST00000351677.7, ENST00000635625.1, ENST00000639857.2, ENST00000687906.1, ENST00000688597.1, ENST00000690210.1 )
PTPN11 p.Ala465Ser (p.A465S) ( ENST00000688597.1, ENST00000690210.1, ENST00000639857.2, ENST00000635625.1, ENST00000687906.1, ENST00000351677.7 )
PTPN11 p.Gly468Ala (p.G468A) ( ENST00000351677.7, ENST00000639857.2, ENST00000635625.1, ENST00000687906.1, ENST00000688597.1, ENST00000690210.1 )
PTPN11 p.Thr472Met (p.T472M) ( ENST00000351677.7, ENST00000635625.1, ENST00000639857.2, ENST00000687906.1, ENST00000688597.1, ENST00000690210.1 )
PTPN11 p.Pro495Thr (p.P495T) ( ENST00000688597.1, ENST00000690210.1, ENST00000639857.2, ENST00000635625.1, ENST00000687906.1, ENST00000351677.7 )
PTPN11 p.Pro495Ala (p.P495A) ( ENST00000351677.7, ENST00000635625.1, ENST00000639857.2, ENST00000687906.1, ENST00000688597.1, ENST00000690210.1 )
PTPN11 p.Pro495Ser (p.P495S) ( ENST00000351677.7, ENST00000635625.1, ENST00000639857.2, ENST00000687906.1, ENST00000688597.1, ENST00000690210.1 )
PTPN11 p.Pro495His (p.P495H) ( ENST00000688597.1, ENST00000690210.1, ENST00000639857.2, ENST00000635625.1, ENST00000687906.1, ENST00000351677.7 )
PTPN11 p.Pro495Leu (p.P495L) ( ENST00000690210.1, ENST00000635625.1, ENST00000639857.2, ENST00000688597.1, ENST00000351677.7, ENST00000687906.1 )
PTPN11 p.Arg502Trp (p.R502W) ( ENST00000351677.7, ENST00000635625.1, ENST00000639857.2, ENST00000687906.1, ENST00000688597.1, ENST00000690210.1 )
PTPN11 p.Arg502Leu (p.R502L) ( ENST00000688597.1, ENST00000687906.1, ENST00000351677.7, ENST00000639857.2, ENST00000635625.1, ENST00000690210.1 )
PTPN11 p.Arg505Lys (p.R505K) ( ENST00000635625.1, ENST00000688597.1, ENST00000351677.7, ENST00000687906.1, ENST00000690210.1, ENST00000639857.2 )
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.Ser506Leu (p.S506L) ( 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.Met508Val (p.M508V) ( 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.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.Gln514Pro (p.Q514P) ( ENST00000690210.1, ENST00000639857.2, ENST00000635625.1, ENST00000688597.1, ENST00000351677.7, ENST00000687906.1 )
PTPN11 p.Gln514Arg (p.Q514R) ( ENST00000688597.1, ENST00000690210.1, ENST00000635625.1, ENST00000639857.2, ENST00000687906.1, ENST00000351677.7 )
PTPN11 p.Thr2Ile (p.T2I) ( ENST00000351677.7, ENST00000392597.5, ENST00000635625.1, ENST00000639857.2, ENST00000687906.1, ENST00000688597.1, ENST00000690210.1 )
PTPN11 p.Thr42Ala (p.T42A) ( ENST00000351677.7, ENST00000392597.5, ENST00000635625.1, ENST00000639857.2, ENST00000687906.1, ENST00000688597.1, ENST00000690210.1 )
PTPN11 p.Thr52Ile (p.T52I) ( ENST00000351677.7, ENST00000392597.5, ENST00000635625.1, ENST00000639857.2, ENST00000687906.1, ENST00000688597.1, ENST00000690210.1 )
PTPN11 p.Asn58His (p.N58H) ( ENST00000351677.7, ENST00000392597.5, ENST00000635625.1, ENST00000639857.2, ENST00000687906.1, ENST00000688597.1, ENST00000690210.1 )
PTPN11 p.Asn58Asp (p.N58D) ( ENST00000351677.7, ENST00000392597.5, ENST00000635625.1, ENST00000639857.2, ENST00000687906.1, ENST00000688597.1, ENST00000690210.1 )
PTPN11 p.Asn58Tyr (p.N58Y) ( ENST00000351677.7, ENST00000392597.5, ENST00000635625.1, ENST00000639857.2, ENST00000687906.1, ENST00000688597.1, ENST00000690210.1 )
PTPN11 p.Asn58Lys (p.N58K) ( ENST00000690210.1, ENST00000351677.7, ENST00000392597.5, ENST00000635625.1, ENST00000639857.2, ENST00000687906.1, ENST00000688597.1 )
PTPN11 p.Asn58Lys (p.N58K) ( ENST00000351677.7, ENST00000392597.5, ENST00000635625.1, ENST00000639857.2, ENST00000687906.1, ENST00000688597.1, ENST00000690210.1 )
PTPN11 p.Gly60Ser (p.G60S) ( ENST00000351677.7, ENST00000392597.5, ENST00000635625.1, ENST00000639857.2, ENST00000687906.1, ENST00000688597.1, ENST00000690210.1 )
PTPN11 p.Gly60Cys (p.G60C) ( ENST00000351677.7, ENST00000392597.5, ENST00000635625.1, ENST00000639857.2, ENST00000687906.1, ENST00000688597.1, ENST00000690210.1 )
PTPN11 p.Gly60Ala (p.G60A) ( ENST00000351677.7, ENST00000392597.5, ENST00000635625.1, ENST00000639857.2, ENST00000687906.1, ENST00000688597.1, ENST00000690210.1 )
PTPN11 p.Gly60Val (p.G60V) ( ENST00000351677.7, ENST00000392597.5, ENST00000635625.1, ENST00000639857.2, ENST00000687906.1, ENST00000688597.1, ENST00000690210.1 )
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.Tyr63Cys (p.Y63C) ( ENST00000351677.7, ENST00000392597.5, ENST00000635625.1, ENST00000639857.2, ENST00000687906.1, ENST00000688597.1, ENST00000690210.1 )
PTPN11 p.Glu69Gln (p.E69Q) ( ENST00000351677.7, ENST00000392597.5, ENST00000635625.1, ENST00000639857.2, ENST00000687906.1, ENST00000688597.1, ENST00000690210.1 )
PTPN11 p.Lys70Arg (p.K70R) ( ENST00000351677.7, ENST00000392597.5, ENST00000635625.1, ENST00000639857.2, ENST00000687906.1, ENST00000688597.1, ENST00000690210.1 )
PTPN11 p.Phe71Leu (p.F71L) ( ENST00000351677.7, ENST00000392597.5, ENST00000635625.1, ENST00000639857.2, ENST00000687906.1, ENST00000688597.1, ENST00000690210.1 )
PTPN11 p.Phe71Val (p.F71V) ( ENST00000351677.7, ENST00000392597.5, ENST00000635625.1, ENST00000639857.2, ENST00000687906.1, ENST00000688597.1, ENST00000690210.1 )
PTPN11 p.Ala72Thr (p.A72T) ( ENST00000639857.2, ENST00000687906.1, ENST00000351677.7, ENST00000392597.5, ENST00000635625.1, ENST00000688597.1, ENST00000690210.1 )
PTPN11 p.Ala72Pro (p.A72P) ( ENST00000351677.7, ENST00000392597.5, ENST00000635625.1, ENST00000639857.2, ENST00000687906.1, ENST00000688597.1, ENST00000690210.1 )
PTPN11 p.Ala72Ser (p.A72S) ( 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.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.Glu76Asp (p.E76D) ( ENST00000351677.7, ENST00000392597.5, ENST00000635625.1, ENST00000639857.2, ENST00000687906.1, ENST00000688597.1, ENST00000690210.1 )
PTPN11 p.Glu76Asp (p.E76D) ( ENST00000351677.7, ENST00000392597.5, ENST00000635625.1, ENST00000639857.2, ENST00000687906.1, ENST00000688597.1, ENST00000690210.1 )
PTPN11 p.Gln79Lys (p.Q79K) ( ENST00000351677.7, ENST00000392597.5, ENST00000635625.1, ENST00000639857.2, ENST00000687906.1, ENST00000688597.1, ENST00000690210.1 )
PTPN11 p.Gln79Arg (p.Q79R) ( ENST00000351677.7, ENST00000392597.5, ENST00000635625.1, ENST00000639857.2, ENST00000687906.1, ENST00000688597.1, ENST00000690210.1 )
PTPN11 p.Asp106Ala (p.D106A) ( ENST00000351677.7, ENST00000392597.5, ENST00000635625.1, ENST00000639857.2, ENST00000687906.1, ENST00000688597.1, ENST00000690210.1 )
PTPN11 p.Glu110Lys (p.E110K) ( 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.Asn200Tyr (p.N200Y) ( ENST00000351677.7, ENST00000392597.5, ENST00000635625.1, ENST00000639857.2, ENST00000687906.1, ENST00000688597.1, ENST00000690210.1 )
PTPN11 p.Gln256Arg (p.Q256R) ( ENST00000351677.7, ENST00000392597.5, ENST00000635625.1, ENST00000639857.2, ENST00000687906.1, ENST00000688597.1, ENST00000690210.1 )
PTPN11 p.Glu258Asp (p.E258D) ( ENST00000351677.7, ENST00000392597.5, ENST00000635625.1, ENST00000639857.2, ENST00000687906.1, ENST00000688597.1, ENST00000690210.1 )
PTPN11 p.Leu261Phe (p.L261F) ( ENST00000351677.7, ENST00000392597.5, ENST00000635625.1, ENST00000639857.2, ENST00000687906.1, ENST00000688597.1, ENST00000690210.1 )
PTPN11 p.Leu262His (p.L262H) ( ENST00000351677.7, ENST00000392597.5, ENST00000635625.1, ENST00000639857.2, ENST00000687906.1, ENST00000688597.1, ENST00000690210.1 )
PTPN11 p.Leu262Arg (p.L262R) ( ENST00000351677.7, ENST00000392597.5, ENST00000635625.1, ENST00000639857.2, ENST00000687906.1, ENST00000688597.1, ENST00000690210.1 )
PTPN11 p.Arg265Gln (p.R265Q) ( ENST00000351677.7, ENST00000392597.5, ENST00000635625.1, ENST00000639857.2, ENST00000687906.1, ENST00000688597.1, ENST00000690210.1 )
PTPN11 p.Gly268Ser (p.G268S) ( ENST00000351677.7, ENST00000392597.5, ENST00000639857.2, ENST00000635625.1, ENST00000687906.1, ENST00000688597.1, ENST00000690210.1 )
PTPN11 p.Gly268Cys (p.G268C) ( ENST00000351677.7, ENST00000392597.5, ENST00000635625.1, ENST00000639857.2, ENST00000687906.1, ENST00000688597.1, ENST00000690210.1 )
PTPN11 p.Tyr279Ser (p.Y279S) ( ENST00000351677.7, ENST00000392597.5, ENST00000635625.1, ENST00000639857.2, ENST00000687906.1, ENST00000688597.1, ENST00000690210.1 )
PTPN11 p.Tyr279Cys (p.Y279C) ( ENST00000351677.7, ENST00000392597.5, ENST00000635625.1, ENST00000639857.2, ENST00000687906.1, ENST00000688597.1, ENST00000690210.1 )
PTPN11 p.Ile282Val (p.I282V) ( ENST00000351677.7, ENST00000392597.5, ENST00000635625.1, ENST00000639857.2, ENST00000687906.1, ENST00000688597.1, ENST00000690210.1 )
PTPN11 p.Ile282Met (p.I282M) ( 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 )
PTPN11 p.Phe285Val (p.F285V) ( ENST00000351677.7, ENST00000392597.5, ENST00000635625.1, ENST00000639857.2, ENST00000687906.1, ENST00000688597.1, ENST00000690210.1 )
PTPN11 p.Phe285Tyr (p.F285Y) ( ENST00000351677.7, ENST00000392597.5, ENST00000635625.1, ENST00000639857.2, ENST00000687906.1, ENST00000688597.1, ENST00000690210.1 )
PTPN11 p.Phe285Ser (p.F285S) ( ENST00000351677.7, ENST00000392597.5, ENST00000635625.1, ENST00000639857.2, ENST00000687906.1, ENST00000688597.1, ENST00000690210.1 )
PTPN11 p.Phe285Cys (p.F285C) ( 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 )
PTPN11 p.Asn308Asp (p.N308D) ( ENST00000351677.7, ENST00000392597.5, ENST00000635625.1, ENST00000639857.2, ENST00000687906.1, ENST00000688597.1, ENST00000690210.1 )
PTPN11 p.Asn308Thr (p.N308T) ( ENST00000351677.7, ENST00000392597.5, ENST00000635625.1, ENST00000639857.2, ENST00000687906.1, ENST00000688597.1, ENST00000690210.1 )
PTPN11 p.Asn308Ser (p.N308S) ( ENST00000351677.7, ENST00000392597.5, ENST00000639857.2, ENST00000635625.1, ENST00000687906.1, ENST00000688597.1, ENST00000690210.1 )
PTPN11 p.Gly413Ala (p.G413A) ( ENST00000351677.7, ENST00000392597.5, ENST00000635625.1, ENST00000639857.2, ENST00000687906.1, ENST00000688597.1, ENST00000690210.1 )
PTPN11 p.Thr415Lys (p.T415K) ( ENST00000351677.7, ENST00000392597.5, ENST00000635625.1, ENST00000639857.2, ENST00000687906.1, ENST00000688597.1, ENST00000690210.1 )
PTPN11 p.Thr415Met (p.T415M) ( ENST00000351677.7, ENST00000392597.5, ENST00000635625.1, ENST00000639857.2, ENST00000687906.1, ENST00000688597.1, ENST00000690210.1 )
PTPN11 p.Ala465Thr (p.A465T) ( ENST00000351677.7, ENST00000635625.1, ENST00000639857.2, ENST00000687906.1, ENST00000688597.1, ENST00000690210.1 )
PTPN11 p.Ala465Ser (p.A465S) ( ENST00000351677.7, ENST00000635625.1, ENST00000639857.2, ENST00000687906.1, ENST00000688597.1, ENST00000690210.1 )
PTPN11 p.Gly468Ala (p.G468A) ( ENST00000351677.7, ENST00000635625.1, ENST00000639857.2, ENST00000687906.1, ENST00000688597.1, ENST00000690210.1 )
PTPN11 p.Thr472Met (p.T472M) ( ENST00000351677.7, ENST00000635625.1, ENST00000639857.2, ENST00000687906.1, ENST00000688597.1, ENST00000690210.1 )
PTPN11 p.Pro495Thr (p.P495T) ( ENST00000351677.7, ENST00000635625.1, ENST00000639857.2, ENST00000687906.1, ENST00000688597.1, ENST00000690210.1 )
PTPN11 p.Pro495Ala (p.P495A) ( ENST00000351677.7, ENST00000635625.1, ENST00000639857.2, ENST00000687906.1, ENST00000688597.1, ENST00000690210.1 )
PTPN11 p.Pro495Ser (p.P495S) ( ENST00000351677.7, ENST00000635625.1, ENST00000639857.2, ENST00000687906.1, ENST00000688597.1, ENST00000690210.1 )
PTPN11 p.Pro495His (p.P495H) ( ENST00000351677.7, ENST00000635625.1, ENST00000639857.2, ENST00000687906.1, ENST00000688597.1, ENST00000690210.1 )
PTPN11 p.Pro495Leu (p.P495L) ( ENST00000351677.7, ENST00000635625.1, ENST00000639857.2, ENST00000687906.1, ENST00000688597.1, ENST00000690210.1 )
PTPN11 p.Arg502Trp (p.R502W) ( ENST00000351677.7, ENST00000635625.1, ENST00000639857.2, ENST00000687906.1, ENST00000688597.1, ENST00000690210.1 )
PTPN11 p.Arg502Leu (p.R502L) ( ENST00000351677.7, ENST00000635625.1, ENST00000639857.2, ENST00000687906.1, ENST00000688597.1, ENST00000690210.1 )
PTPN11 p.Arg505Lys (p.R505K) ( ENST00000351677.7, 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.Ser506Leu (p.S506L) ( 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.Met508Val (p.M508V) ( 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 )
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.Gln514Pro (p.Q514P) ( ENST00000351677.7, ENST00000635625.1, ENST00000639857.2, ENST00000687906.1, ENST00000688597.1, ENST00000690210.1 )
PTPN11 p.Gln514Arg (p.Q514R) ( ENST00000351677.7, ENST00000635625.1, ENST00000639857.2, ENST00000687906.1, ENST00000688597.1, ENST00000690210.1 ) - Associated Disease
- Turner Syndrome, Male
- Source Database
- DisGeNET
- Description
- NA
- Original source reporting the Gene Disease association
- CLINVAR
- DisGENET score for the Gene Disease association
- 0.12
- Year of publication
- NA
Drugs