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.1370C>T r.(?) p.(Pro457Leu) - VUS g.136302010C>T g.133436890C>T - - ADAMTS13_000045 - - - - Germline - - - - - Gerard C.P. Schaafsma
?/. - c.1370C>T r.(?) p.(Pro457Leu) - VUS g.136302010C>T - ADAMTS13(NM_139025.4):c.1370C>T (p.P457L) - ADAMTS13_000045 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
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