Variant detail

mut_id 354 · c.1615del

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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.1615del
Location
exon 14
Domain
Not available
Gene
ADAMTS13

References

Upshaw-Schulman Syndrome: Novel homozygous missense mutation
Authors: Sarmiento H, Pomares IM, Manresa PM, Castaño FL, Hernandez LM, Marco P.
Source: Thromb Res (2017)
Citation: Thromb Res. 2017 Oct;158:83-85. doi: 10.1016/j.thromres.2017.08.013. Epub 2017 Aug 23.
PubMed: 28858683 · DOI: 10.1016/j.thromres.2017.08.013

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.1615del
nt_change
Deletion
g_numb
g16
g_id
g16
g_name
ADAMTS13
refState
complete
ref_id
292

Patients linked by mut_id

No linked patients found.