All variants in the ADAMTS13 gene

Information The variants shown are described using the NM_139025.3 transcript reference sequence.

1 entry on 1 page. Showing entry 1.
Legend   How to query  

Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Classification method     

Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Owner     
+/? ? c.1523G>A r.(?) p.(Cys508Tyr) - pathogenic g.136302956G>A g.133437836G>A - - ADAMTS13_000040 submitted through SIB; ExPASy_027122; The mutation results in lack of protein secretion and loss of proteolytic activity PubMed: Kokame et al (2002) - - Unknown - - - 0 - SIB - Livia Famiglietti
Legend   How to query