Annotation Detail
Information
- Associated Genes
- ADAMTS13
- Associated Variants
-
ADAMTS13 p.Glu98ProfsTer31 (p.E98Pfs*31)
(
ENST00000355699.7,
ENST00000356589.6,
ENST00000371911.7,
ENST00000371916.5,
ENST00000371929.7 )
ADAMTS13 p.Leu595GlyfsTer19 (p.L595Gfs*19) ( ENST00000355699.7, ENST00000356589.6, ENST00000371916.5, ENST00000371929.7 )
ADAMTS13 p.Ala793ProfsTer43 (p.A793Pfs*43) ( ENST00000355699.7, ENST00000356589.6, ENST00000371916.5, ENST00000371929.7 )
ADAMTS13 p.Cys977_Arg979delinsTrp (p.C977_R979delinsW) ( ENST00000355699.7, ENST00000356589.6, ENST00000371916.5, ENST00000371929.7 )
ADAMTS13 p.Glu98ProfsTer31 (p.E98Pfs*31) ( ENST00000355699.7, ENST00000356589.6, ENST00000371911.7, ENST00000371916.5, ENST00000371929.7 )
ADAMTS13 p.Leu595GlyfsTer19 (p.L595Gfs*19) ( ENST00000355699.7, ENST00000356589.6, ENST00000371916.5, ENST00000371929.7 )
ADAMTS13 p.Ala793ProfsTer43 (p.A793Pfs*43) ( ENST00000355699.7, ENST00000356589.6, ENST00000371916.5, ENST00000371929.7 )
ADAMTS13 p.Cys977_Arg979delinsTrp (p.C977_R979delinsW) ( ENST00000355699.7, ENST00000356589.6, ENST00000371916.5, ENST00000371929.7 )
ADAMTS13 p.His96Asp (p.H96D) ( ENST00000355699.7, ENST00000356589.6, ENST00000371911.7, ENST00000371916.5, ENST00000371929.7 )
ADAMTS13 p.Arg102Cys (p.R102C) ( ENST00000355699.7, ENST00000356589.6, ENST00000371911.7, ENST00000371916.5, ENST00000371929.7 )
ADAMTS13 c.331-1G>A ( ENST00000355699.7, ENST00000356589.6, ENST00000371911.7, ENST00000371916.5, ENST00000371929.7 )
ADAMTS13 c.414+1G>A ( ENST00000355699.7, ENST00000356589.6, ENST00000371911.7, ENST00000371916.5, ENST00000371929.7 )
ADAMTS13 p.Thr196Ile (p.T196I) ( ENST00000355699.7, ENST00000356589.6, ENST00000371911.7, ENST00000371916.5, ENST00000371929.7 )
ADAMTS13 p.Ala250Val (p.A250V) ( ENST00000355699.7, ENST00000356589.6, ENST00000371911.7, ENST00000371916.5, ENST00000371929.7 )
ADAMTS13 p.Arg268Pro (p.R268P) ( ENST00000355699.7, ENST00000356589.6, ENST00000371911.7, ENST00000371916.5, ENST00000371929.7 )
ADAMTS13 p.Arg398His (p.R398H) ( ENST00000355699.7, ENST00000356589.6, ENST00000371916.5, ENST00000371929.7 )
ADAMTS13 p.Gln448Glu (p.Q448E) ( ENST00000355699.7, ENST00000356589.6, ENST00000371916.5, ENST00000371929.7 )
ADAMTS13 p.Gln449Ter (p.Q449*) ( ENST00000355699.7, ENST00000356589.6, ENST00000371916.5, ENST00000371929.7 )
ADAMTS13 p.Pro475Ser (p.P475S) ( ENST00000355699.7, ENST00000356589.6, ENST00000371916.5, ENST00000371929.7 )
ADAMTS13 p.Cys508Tyr (p.C508Y) ( ENST00000355699.7, ENST00000356589.6, ENST00000371916.5, ENST00000371929.7 )
ADAMTS13 p.Arg528Gly (p.R528G) ( ENST00000355699.7, ENST00000356589.6, ENST00000371916.5, ENST00000371929.7 )
ADAMTS13 p.Arg692Cys (p.R692C) ( ENST00000355699.7, ENST00000356589.6, ENST00000371916.5, ENST00000371929.7 )
ADAMTS13 p.Cys951Gly (p.C951G) ( ENST00000355699.7, ENST00000356589.6, ENST00000371916.5, ENST00000371929.7 )
ADAMTS13 p.Cys1024Gly (p.C1024G) ( ENST00000355699.7, ENST00000356589.6, ENST00000371916.5, ENST00000371929.7 )
ADAMTS13 p.Cys1213Tyr (p.C1213Y) ( ENST00000355699.7, ENST00000356589.6, ENST00000371910.1, ENST00000371916.5, ENST00000371929.7 )
ADAMTS13 p.His96Asp (p.H96D) ( ENST00000355699.7, ENST00000356589.6, ENST00000371911.7, ENST00000371916.5, ENST00000371929.7 )
ADAMTS13 p.Arg102Cys (p.R102C) ( ENST00000355699.7, ENST00000356589.6, ENST00000371911.7, ENST00000371916.5, ENST00000371929.7 )
ADAMTS13 c.331-1G>A ( ENST00000355699.7, ENST00000356589.6, ENST00000371911.7, ENST00000371916.5, ENST00000371929.7 )
ADAMTS13 c.414+1G>A ( ENST00000355699.7, ENST00000356589.6, ENST00000371911.7, ENST00000371916.5, ENST00000371929.7 )
ADAMTS13 p.Thr196Ile (p.T196I) ( ENST00000355699.7, ENST00000356589.6, ENST00000371911.7, ENST00000371916.5, ENST00000371929.7 )
ADAMTS13 p.Ala250Val (p.A250V) ( ENST00000355699.7, ENST00000356589.6, ENST00000371911.7, ENST00000371916.5, ENST00000371929.7 )
ADAMTS13 p.Arg268Pro (p.R268P) ( ENST00000355699.7, ENST00000356589.6, ENST00000371911.7, ENST00000371916.5, ENST00000371929.7 )
ADAMTS13 p.Arg398His (p.R398H) ( ENST00000355699.7, ENST00000356589.6, ENST00000371916.5, ENST00000371929.7 )
ADAMTS13 p.Gln448Glu (p.Q448E) ( ENST00000355699.7, ENST00000356589.6, ENST00000371916.5, ENST00000371929.7 )
ADAMTS13 p.Gln449Ter (p.Q449*) ( ENST00000355699.7, ENST00000356589.6, ENST00000371916.5, ENST00000371929.7 )
ADAMTS13 p.Pro475Ser (p.P475S) ( ENST00000355699.7, ENST00000356589.6, ENST00000371916.5, ENST00000371929.7 )
ADAMTS13 p.Cys508Tyr (p.C508Y) ( ENST00000355699.7, ENST00000356589.6, ENST00000371916.5, ENST00000371929.7 )
ADAMTS13 p.Arg528Gly (p.R528G) ( ENST00000355699.7, ENST00000356589.6, ENST00000371916.5, ENST00000371929.7 )
ADAMTS13 p.Arg692Cys (p.R692C) ( ENST00000355699.7, ENST00000356589.6, ENST00000371916.5, ENST00000371929.7 )
ADAMTS13 p.Cys951Gly (p.C951G) ( ENST00000355699.7, ENST00000356589.6, ENST00000371916.5, ENST00000371929.7 )
ADAMTS13 p.Cys1024Gly (p.C1024G) ( ENST00000355699.7, ENST00000356589.6, ENST00000371916.5, ENST00000371929.7 )
ADAMTS13 p.Cys1213Tyr (p.C1213Y) ( ENST00000355699.7, ENST00000356589.6, ENST00000371910.1, ENST00000371916.5, ENST00000371929.7 )
ADAMTS13 p.Leu1258ValfsTer36 (p.L1258Vfs*36)
ADAMTS13 p.Glu1382ArgfsTer6 (p.E1382Rfs*6)
ADAMTS13 p.Leu1258ValfsTer36 (p.L1258Vfs*36)
ADAMTS13 p.Glu1382ArgfsTer6 (p.E1382Rfs*6) - Associated Disease
- Congenital Thrombotic Thrombocytopenic Purpura
- Source Database
- DisGeNET
- Description
- NA
- Original source reporting the Gene Disease association
- CLINVAR
- DisGENET score for the Gene Disease association
- 0.453224706861814
- Year of publication
- NA
Drugs