Annotation Detail
Information
- Associated Genes
- ADAMTS13
- Associated Variants
-
ADAMTS13 p.Gln448Glu (p.Q448E)
(
ENST00000355699.7,
ENST00000356589.6,
ENST00000371916.5,
ENST00000371929.7 )
ADAMTS13 p.Pro618Ala (p.P618A) ( ENST00000355699.7, ENST00000356589.6, ENST00000371916.5, ENST00000371929.7 )
ADAMTS13 p.Ala732Val (p.A732V) ( ENST00000355699.7, ENST00000356589.6, ENST00000371916.5, ENST00000371929.7 )
ADAMTS13 p.Arg1336Trp (p.R1336W) ( ENST00000355699.7, ENST00000356589.6, ENST00000371910.1, ENST00000371916.5, ENST00000371929.7 )
ADAMTS13 p.Gln448Glu (p.Q448E) ( ENST00000355699.7, ENST00000356589.6, ENST00000371916.5, ENST00000371929.7 )
ADAMTS13 p.Pro618Ala (p.P618A) ( ENST00000355699.7, ENST00000356589.6, ENST00000371916.5, ENST00000371929.7 )
ADAMTS13 p.Ala732Val (p.A732V) ( ENST00000355699.7, ENST00000356589.6, ENST00000371916.5, ENST00000371929.7 )
ADAMTS13 p.Arg1336Trp (p.R1336W) ( ENST00000355699.7, ENST00000356589.6, ENST00000371910.1, ENST00000371916.5, ENST00000371929.7 ) - Associated Disease
- Purpura, Thrombotic Thrombocytopenic
- Source Database
- DisGeNET
- Description
- Sequence analysis of the ADAMTS13 locus of 2 patients with hereditary thrombotic thrombocytopenic purpura (TTP) revealed the homozygous presence of 4 single nucleotide polymorphisms (SNPs) (R7W, Q448E, P618A, A732V) and a rare missense mutation (R1336W).
- Pubmed
- 16160007
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.226848998899042
- Year of publication
- 2006
Drugs