All variants in the ADAMTS13 gene

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

3 entries on 1 page. Showing entries 1 - 3.
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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.3178C>T r.(?) p.(Arg1060Trp) - pathogenic g.136319670C>T g.133454548C>T - - ADAMTS13_000008 submitted through SIB; ExPASy_067792; The mutation results in reduced protein secretion and proteolytic activity. Corresponds to rs142572218 in dbSNP PubMed: Donadelli et al (2006) - - Unknown - - - 0 - SIB - Livia Famiglietti
+/? ? c.3178C>T r.(?) p.(Arg1060Trp) - pathogenic g.136319670C>T g.133454548C>T - - ADAMTS13_000008 submitted through SIB; ExPASy_067792; The mutation results in reduced protein secretion and proteolytic activity. Corresponds to rs142572218 in dbSNP PubMed: Schneppenheim et al (2006) - - Unknown - - - 0 - SIB - Livia Famiglietti
+/? ? c.3178C>T r.(?) p.(Arg1060Trp) - pathogenic g.136319670C>T g.133454548C>T - - ADAMTS13_000008 submitted through SIB; ExPASy_067792; The mutation results in reduced protein secretion and proteolytic activity. Corresponds to rs142572218 in dbSNP PubMed: Tao et al (2006) - - Unknown - - - 0 - SIB - Livia Famiglietti
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