Variant detail

mut_id 240 · c.718_724del

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Evidence at a glance

0
Linked patients
0
Patient-variant records
1
Linked references
0
Countries reported
—
Common phenotype
—
Common zygosity

Summary

Deletion Deletion
HGVS
c.718_724del
Location
exon 7
Domain
Not available
Gene
ADAMTS13

References

Congenital thrombotic thrombocytopenic purpura in association with a mutation in the second CUB domain of ADAMTS13
Authors: Pimanda JE, Maekawa A, Wind T, Paxton J, Chesterman CN, Hogg PJ.
Source: Blood (2004)
Citation: Blood. 2004 Jan 15;103(2):627-9. doi: 10.1182/blood-2003-04-1346. Epub 2003 Sep 25.
PubMed: 14512317 · DOI: 10.1182/blood-2003-04-1346

Interactive AlphaFold structure

A residue-position-based structure view is only available when this variant has a numeric amino-acid position in aa_numb_HGVS. This record looks non-coding or splice-related, so no specific residue can be plotted directly.

Patient summary

No linked patients found for this variant.

Variant fields

mut_syn_HGVS
c.718_724del
nt_change
Deletion
g_numb
g16
g_id
g16
g_name
ADAMTS13
refState
complete
ref_id
181

Patients linked by mut_id

No linked patients found.