Variant detail

mut_id 172 · c.1095_1112del · p.Trp365_Arg370del

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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.1095_1112del
Protein change
p.Trp365_Arg370del
Location
exon 10
Domain
Not available
Gene
ADAMTS13

References

A common origin of the 4143insA ADAMTS13 mutation
Authors: Schneppenheim R, Kremer Hovinga JA, Becker T, Budde U, Karpman D, Brockhaus W, Hrachovinová I, Korczowski B, Oyen F, Rittich S, von Rosen J, Tjønnfjord GE, Pimanda JE, Wienker TF, Lämmle B.
Source: Thromb Haemost (2006)
Citation: Thromb Haemost. 2006 Jul;96(1):3-6. doi: 10.1160/TH05-12-0817.
PubMed: 16807643 · DOI: 10.1160/TH05-12-0817

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.1095_1112del
nt_change
Deletion
g_numb
g16
aa_syn
p.Trp365_Arg370del
g_id
g16
g_name
ADAMTS13
refState
complete
ref_id
165

Patients linked by mut_id

No linked patients found.