Annotation Detail
Information
- Associated Genes
- ADAMTS13
- Associated Variants
-
ADAMTS13 p.Arg1123Cys (p.R1123C)
(
ENST00000355699.7,
ENST00000356589.6,
ENST00000371916.5,
ENST00000371929.7 )
ADAMTS13 p.Arg1123Cys (p.R1123C) ( ENST00000355699.7, ENST00000356589.6, ENST00000371916.5, ENST00000371929.7 ) - Associated Disease
- not provided
- Source Database
- ClinVar
- Description
- NM_139027.6(ADAMTS13):c.3367C>T (p.Arg1123Cys) AND not provided
- ClinVar Allele ID
- 79707
- ClinVar RefSeq Alternation Syntax
- NM_139025.5:c.3367C>T
- ClinVar RefSeq Alternation Syntax
- NM_139027.6:c.3367C>T
- ClinVar RefSeq Alternation Syntax
- NR_024514.3:n.2204C>T
- ClinVar RefSeq Alternation Syntax
- NM_139026.6:c.3274C>T
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2021-12-24
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000059768
- ClinVar Disease
- not provided
- Observed Origin Sample
- germline
- Observed Origin Sample
- not provided
Drugs