Annotation Detail
Information
- Associated Genes
- ADAMTS13
- Associated Variants
-
ADAMTS13 p.Gln448Glu (p.Q448E)
(
ENST00000355699.7,
ENST00000356589.6,
ENST00000371916.5,
ENST00000371929.7 )
ADAMTS13 p.Gln448Glu (p.Q448E) ( ENST00000355699.7, ENST00000356589.6, ENST00000371916.5, ENST00000371929.7 ) - Associated Disease
- not specified
- Source Database
- ClinVar
- Description
- NM_139027.6(ADAMTS13):c.1342C>G (p.Gln448Glu) AND not specified
- ClinVar Allele ID
- 20852
- ClinVar RefSeq Alternation Syntax
- NM_139025.5:c.1342C>G
- ClinVar RefSeq Alternation Syntax
- NM_139026.6:c.1249C>G
- ClinVar RefSeq Alternation Syntax
- NM_139027.6:c.1342C>G
- Clinical Significance Description
- Benign
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000241706
- ClinVar Disease
- not specified
- Observed Origin Sample
- germline
Drugs