Annotation Detail
Information
- Associated Genes
- ADAMTS13
- Associated Variants
-
ADAMTS13 p.Arg1060Trp (p.R1060W)
(
ENST00000355699.7,
ENST00000356589.6,
ENST00000371916.5,
ENST00000371929.7 )
ADAMTS13 p.Arg1060Trp (p.R1060W) ( ENST00000355699.7, ENST00000356589.6, ENST00000371916.5, ENST00000371929.7 ) - Associated Disease
- Upshaw-Schulman syndrome
- Source Database
- ClinVar
- Description
- NM_139027.6(ADAMTS13):c.3178C>T (p.Arg1060Trp) AND Upshaw-Schulman syndrome
- ClinVar Allele ID
- 79706
- ClinVar RefSeq Alternation Syntax
- NM_139025.5:c.3178C>T
- ClinVar RefSeq Alternation Syntax
- NM_139026.6:c.3085C>T
- ClinVar RefSeq Alternation Syntax
- NM_139027.6:c.3178C>T
- ClinVar RefSeq Alternation Syntax
- NR_024514.3:n.2015C>T
- Clinical Significance Description
- Pathogenic/Likely pathogenic
- Clinical Significance Last Update
- 2023-08-16
- Clinical Significance Review Status
- criteria provided, multiple submitters, no conflicts
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000779576
- ClinVar Disease
- Upshaw-Schulman syndrome
- Observed Origin Sample
- germline
- Observed Origin Sample
- unknown
- Pubmed
- 30792199
- Pubmed
- 31971692
- Pubmed
- 30312976
- Pubmed
- 26566785
Drugs