Annotation Detail

Information
Associated Genes
ADAMTS13
Associated Variants
ADAMTS13 p.Ile79Met (p.I79M) ( ENST00000355699.7, ENST00000356589.6, ENST00000371911.7, ENST00000371916.5, ENST00000371929.7 )
ADAMTS13 p.Ile79Met (p.I79M) ( ENST00000355699.7, ENST00000356589.6, ENST00000371911.7, ENST00000371916.5, ENST00000371929.7 )
Associated Disease
not provided
Source Database
ClinVar
Description
NM_139027.6(ADAMTS13):c.237C>G (p.Ile79Met) AND not provided
ClinVar Allele ID
79702
ClinVar RefSeq Alternation Syntax
NM_139025.5:c.237C>G
ClinVar RefSeq Alternation Syntax
NM_139026.6:c.237C>G
ClinVar RefSeq Alternation Syntax
NR_024514.3:n.440C>G
ClinVar RefSeq Alternation Syntax
NM_139027.6:c.237C>G
Clinical Significance Description
not provided
Clinical Significance Review Status
no assertion provided
URL
https://www.ncbi.nlm.nih.gov/clinvar/RCV000059763
ClinVar Disease
not provided
Observed Origin Sample
not provided
Drugs