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.19C>T r.(?) p.(Arg7Trp) - benign g.136287582C>T g.133422462C>T - - ADAMTS13_000062 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. - c.19C>T r.(?) p.(Arg7Trp) - likely benign g.136287582C>T g.133422462C>T - - ADAMTS13_000062 209 heterozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs34024143 Germline - 209/2792 individuals - 0 - Mohammed Faruq
-?/. - c.19C>T r.(?) p.(Arg7Trp) - likely benign g.136287582C>T g.133422462C>T - - ADAMTS13_000062 8 homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs34024143 Germline - 8/2792 individuals - 0 - Mohammed Faruq
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