Annotation Detail
Information
- Associated Genes
- ADAMTS13
- Associated Variants
-
ADAMTS13 p.Arg692Cys (p.R692C)
(
ENST00000355699.7,
ENST00000356589.6,
ENST00000371916.5,
ENST00000371929.7 )
ADAMTS13 p.Arg692Cys (p.R692C) ( ENST00000355699.7, ENST00000356589.6, ENST00000371916.5, ENST00000371929.7 ) - Associated Disease
- Upshaw-Schulman syndrome
- Source Database
- ClinVar
- Description
- NM_139027.6(ADAMTS13):c.2074C>T (p.Arg692Cys) AND Upshaw-Schulman syndrome
- ClinVar Allele ID
- 20848
- ClinVar RefSeq Alternation Syntax
- NM_139025.5:c.2074C>T
- ClinVar RefSeq Alternation Syntax
- NM_139027.6:c.2074C>T
- ClinVar RefSeq Alternation Syntax
- NM_139026.6:c.1981C>T
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2001-10-04
- Clinical Significance Review Status
- no assertion criteria provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000006165
- ClinVar Disease
- Upshaw-Schulman syndrome
- Observed Origin Sample
- germline
- Pubmed
- 11586351
Drugs