Annotation Detail
Information
- Associated Genes
- ADAMTS13
- Associated Variants
-
ADAMTS13 p.Arg398Cys (p.R398C)
(
ENST00000355699.7,
ENST00000356589.6,
ENST00000371916.5,
ENST00000371929.7 )
ADAMTS13 p.Gln449Ter (p.Q449*) ( ENST00000355699.7, ENST00000356589.6, ENST00000371916.5, ENST00000371929.7 )
ADAMTS13 p.Gln723Lys (p.Q723K) ( ENST00000355699.7, ENST00000356589.6, ENST00000371916.5, ENST00000371929.7 )
ADAMTS13 p.Arg398Cys (p.R398C) ( ENST00000355699.7, ENST00000356589.6, ENST00000371916.5, ENST00000371929.7 )
ADAMTS13 p.Gln449Ter (p.Q449*) ( ENST00000355699.7, ENST00000356589.6, ENST00000371916.5, ENST00000371929.7 )
ADAMTS13 p.Gln723Lys (p.Q723K) ( ENST00000355699.7, ENST00000356589.6, ENST00000371916.5, ENST00000371929.7 ) - Associated Disease
- Congenital Thrombotic Thrombocytopenic Purpura
- Source Database
- DisGeNET
- Description
- Analyses of the ADAMTS13 genes in USS-CC5 and USS-HH4 revealed compound heterozygotes of p.R398C/p.Q723K and p.Q449X/p.Q1374Sfs, respectively.
- Pubmed
- 23188471
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.453224706861814
- Year of publication
- 2012
Drugs