Annotation Detail

Information
Associated Genes
ADAMTS13
Associated Variants
ADAMTS13 p.Cys908Tyr (p.C908Y) ( ENST00000355699.7, ENST00000356589.6, ENST00000371916.5, ENST00000371929.7 )
ADAMTS13 p.Cys908Tyr (p.C908Y) ( ENST00000355699.7, ENST00000356589.6, ENST00000371916.5, ENST00000371929.7 )
Associated Disease
not provided
Source Database
ClinVar
Description
NM_139027.6(ADAMTS13):c.2723G>A (p.Cys908Tyr) AND not provided
ClinVar Allele ID
79704
ClinVar RefSeq Alternation Syntax
NM_139025.5:c.2723G>A
ClinVar RefSeq Alternation Syntax
NM_139027.6:c.2723G>A
ClinVar RefSeq Alternation Syntax
NR_024514.3:n.1560G>A
ClinVar RefSeq Alternation Syntax
NM_139026.6:c.2630G>A
Clinical Significance Description
not provided
Clinical Significance Review Status
no assertion provided
URL
https://www.ncbi.nlm.nih.gov/clinvar/RCV000059765
ClinVar Disease
not provided
Observed Origin Sample
not provided
Drugs