Annotation Detail
Information
- Associated Genes
- ADAMTS13 LOC130002910
- Associated Variants
-
ADAMTS13 p.Arg268Pro (p.R268P)
(
ENST00000355699.7,
ENST00000356589.6,
ENST00000371911.7,
ENST00000371916.5,
ENST00000371929.7 )
ADAMTS13 p.Arg268Pro (p.R268P) ( ENST00000355699.7, ENST00000356589.6, ENST00000371911.7, ENST00000371916.5, ENST00000371929.7 ) - Associated Disease
- Upshaw-Schulman syndrome
- Source Database
- ClinVar
- Description
- NM_139027.6(ADAMTS13):c.803G>C (p.Arg268Pro) AND Upshaw-Schulman syndrome
- ClinVar Allele ID
- 20851
- ClinVar RefSeq Alternation Syntax
- NM_139025.5:c.803G>C
- ClinVar RefSeq Alternation Syntax
- NM_139026.6:c.803G>C
- ClinVar RefSeq Alternation Syntax
- NM_139027.6:c.803G>C
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2002-09-03
- Clinical Significance Review Status
- no assertion criteria provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000006168
- ClinVar Disease
- Upshaw-Schulman syndrome
- Observed Origin Sample
- germline
- Pubmed
- 12181489
Drugs