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.1058C>T r.(?) p.(Pro353Leu) - pathogenic g.136297779C>T g.133432658C>T - - ADAMTS13_000005 submitted through SIB; ExPASy_067782 PubMed: Assink et al (2003) - - Unknown - - - 0 - SIB - Livia Famiglietti
+/? ? c.1058C>T r.(?) p.(Pro353Leu) - pathogenic g.136297779C>T g.133432658C>T - - ADAMTS13_000005 submitted through SIB; ExPASy_067782 PubMed: Schneppenheim et al (2003) - - Unknown - - - 0 - SIB - Livia Famiglietti
+?/. - c.1058C>T r.(?) p.(Pro353Leu) - likely pathogenic g.136297779C>T - - - ADAMTS13_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
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