All variants in the ADAMTS13 gene

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

2 entries on 1 page. Showing entries 1 - 2.
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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.3070T>G r.(?) p.(Cys1024Gly) - VUS g.136319562T>G g.133454440T>G - - ADAMTS13_000035 - - - - Germline - - - - - Gerard C.P. Schaafsma
+/? ? c.3070T>G r.(?) p.(Cys1024Gly) - pathogenic g.136319562T>G g.133454440T>G - - ADAMTS13_000035 submitted through SIB; ExPASy_027133 PubMed: Levy et al (2001) - - Unknown - - - 0 - SIB - Livia Famiglietti
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