Annotation Detail
Information
- Associated Genes
- ADAMTS13
- Associated Variants
-
ADAMTS13 p.Arg398Cys (p.R398C)
(
ENST00000355699.7,
ENST00000356589.6,
ENST00000371916.5,
ENST00000371929.7 )
ADAMTS13 p.Arg398Cys (p.R398C) ( ENST00000355699.7, ENST00000356589.6, ENST00000371916.5, ENST00000371929.7 ) - Associated Disease
- Upshaw-Schulman syndrome
- Source Database
- ClinVar
- Description
- NM_139027.6(ADAMTS13):c.1192C>T (p.Arg398Cys) AND Upshaw-Schulman syndrome
- ClinVar Allele ID
- 1692633
- ClinVar RefSeq Alternation Syntax
- NM_139026.6:c.1099C>T
- ClinVar RefSeq Alternation Syntax
- NM_139025.5:c.1192C>T
- ClinVar RefSeq Alternation Syntax
- NM_139027.6:c.1192C>T
- Clinical Significance Description
- Likely pathogenic
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV002274488
- ClinVar Disease
- Upshaw-Schulman syndrome
- Observed Origin Sample
- paternal
Drugs