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.1342C>G r.(?) p.(Gln448Glu) - benign g.136301982C>G g.133436862C>G ADAMTS13(NM_139025.4):c.1342C>G (p.Q448E) - ADAMTS13_000052 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
-/. - c.1342C>G r.(?) p.(Gln448Glu) - benign g.136301982C>G g.133436862C>G ADAMTS13(NM_139025.4):c.1342C>G (p.Q448E) - ADAMTS13_000052 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
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